name: presenilin-1 sequence variant I167del (human)

description: A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Ile-167 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-166, 168-467.


name: presenilin-1 sequence variant G206D (human)

description: A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:29958.


name: presenilin-1 sequence variant L219R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:29952.


name: presenilin-1 sequence variant L166del (human)

description: A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-165, 167-467.


name: presenilin-1 sequence variant Y154C (human)

description: A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Tyr-154 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-154, CHEBI:29950.


name: presenilin-1 sequence variant R377W (human)

description: A presenilin-1 sequence variant (human) that has a Trp residue at the position equivalent to Arg-377 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-377, CHEBI:29954.


name: presenilin-1 sequence variant C263R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Cys-263 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-263, CHEBI:29952.


name: presenilin-1 sequence variant S230R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Ser-230 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-230, CHEBI:29952.


name: presenilin-1 sequence variant A231T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-231 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-231, CHEBI:30013.


name: presenilin-1 sequence variant A434T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-434 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-434, CHEBI:30013.


name: presenilin-1 sequence variant R278S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:29999.


name: presenilin-1 sequence variant T245P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Thr-245 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-245, CHEBI:50342.


name: presenilin-1 sequence variant G217D (human)

description: A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Gly-217 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-217, CHEBI:29958.


name: presenilin-1 sequence variant L219P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:50342.


name: presenilin-1 sequence variant E184D (human)

description: A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Glu-184 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-184, CHEBI:29958.


name: presenilin-1 sequence variant T354I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Thr-354 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-354, CHEBI:30009.


name: presenilin-1 sequence variant H163P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to His-163 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-163, CHEBI:50342.


name: presenilin-1 sequence variant N135S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Asn-135 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-135, CHEBI:29999.


name: presenilin-1 sequence variant R358Q (human)

description: A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Arg-358 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-358, CHEBI:30011.


name: presenilin-1 sequence variant V272A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Val-272 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-272, CHEBI:46217.


name: presenilin-1 sequence variant T116R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Thr-116 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-116, CHEBI:29952.


name: presenilin-1 sequence variant I143N (human)

description: A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:50347.


name: presenilin-1 sequence variant G206V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:30015.


name: presenilin-1 sequence variant F175S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Phe-175 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-175, CHEBI:29999.


name: presenilin-1 sequence variant R278T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:30013.


name: presenilin-1 sequence variant H131R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to His-131 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-131, CHEBI:29952.


name: presenilin-1 sequence variant A434C (human)

description: A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Ala-434 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-434, CHEBI:29950.


name: presenilin-1 sequence variant I202F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-202 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-202, CHEBI:29997.


name: presenilin-1 sequence variant E280A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:46217.


name: presenilin-1 sequence variant F105L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:30006.


name: presenilin-1 sequence variant A164V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-164 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-164, CHEBI:30015.


name: presenilin-1 sequence variant V261L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-261 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-261, CHEBI:30006.


name: presenilin-1 sequence variant E123K (human)

description: A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-123 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-123, CHEBI:29967.


name: presenilin-1 sequence variant V82L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-82 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-82, CHEBI:30006.


name: presenilin-1 sequence variant R269H (human)

description: A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Arg-269 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-269, CHEBI:29979.


name: presenilin-1 sequence variant L424H (human)

description: A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:29979.


name: presenilin-1 sequence variant F105I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:30009.


name: presenilin-1 sequence variant I143T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:30013.


name: presenilin-1 sequence variant S169P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ser-169 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-169, CHEBI:50342.


name: presenilin-1 sequence variant H163R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to His-163 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-163, CHEBI:29952.


name: presenilin-1 sequence variant L174M (human)

description: A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Leu-174 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-174, CHEBI:16044.


name: presenilin-1 sequence variant I439S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Ile-439 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-439, CHEBI:29999.


name: presenilin-1 sequence variant G266S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Gly-266 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-266, CHEBI:29999.


name: presenilin-1 sequence variant I143F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:29997.


name: presenilin-1 sequence variant L166V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:30015.


name: presenilin-1 sequence variant S170F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ser-170 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-170, CHEBI:29997.


name: presenilin-1 sequence variant L166R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:29952.


name: presenilin-1 sequence variant S169del (human)

description: A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Ser-169 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-168, 170-467.


name: presenilin-1 sequence variant I213T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-213 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-213, CHEBI:30013.


name: presenilin-1 sequence variant T116N (human)

description: A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Thr-116 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-116, CHEBI:50347.


name: presenilin-1 sequence variant L435F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-435 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-435, CHEBI:29997.


name: presenilin-1 sequence variant G378V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-378 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-378, CHEBI:30015.


name: presenilin-1 sequence variant T440del (human)

description: A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Thr-440 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-439, 441-467.


name: presenilin-1 sequence variant S169L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Ser-169 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-169, CHEBI:30006.


name: presenilin-1 sequence variant A231P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ala-231 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-231, CHEBI:50342.


name: presenilin-1 sequence variant F177L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-177 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-177, CHEBI:30006.


name: presenilin-1 sequence variant R278I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:30009.


name: presenilin-1 sequence variant A426P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ala-426 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-426, CHEBI:50342.


name: presenilin-1 sequence variant A396T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-396 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-396, CHEBI:30013.


name: presenilin-1 sequence variant M146V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Met-146 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-146, CHEBI:30015.


name: presenilin-1 sequence variant I437V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ile-437 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-437, CHEBI:30015.


name: presenilin-1 sequence variant V89L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-89 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-89, CHEBI:30006.


name: presenilin-1 sequence variant F105C (human)

description: A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:29950.


name: presenilin-1 sequence variant A285V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-285 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-285, CHEBI:30015.


name: presenilin-1 sequence variant P284S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-284 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-284, CHEBI:29999.


name: presenilin-1 sequence variant L282R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-282 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-282, CHEBI:29952.


name: presenilin-1 sequence variant G217R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gly-217 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-217, CHEBI:29952.


name: presenilin-1 sequence variant V191A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Val-191 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-191, CHEBI:46217.


name: presenilin-1 sequence variant N405S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Asn-405 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-405, CHEBI:29999.


name: presenilin-1 sequence variant L150P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-150 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-150, CHEBI:50342.


name: presenilin-1 sequence variant H214Y (human)

description: A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:46858.


name: presenilin-1 sequence variant C92S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Cys-92 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-92, CHEBI:29999.


name: presenilin-1 sequence variant F386S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Phe-386 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-386, CHEBI:29999.


name: presenilin-1 sequence variant P117S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-117 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-117, CHEBI:29999.


name: presenilin-1 sequence variant E120G (human)

description: A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-120 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-120, CHEBI:29947.


name: presenilin-1 sequence variant L392V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-392 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-392, CHEBI:30015.


name: presenilin-1 sequence variant I168T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-168 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-168, CHEBI:30013.


name: presenilin-1 sequence variant P117A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Pro-117 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-117, CHEBI:46217.


name: presenilin-1 sequence variant M139I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:30009.


name: presenilin-1 sequence variant S365Y (human)

description: A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Ser-365 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-365, CHEBI:46858.


name: presenilin-1 sequence variant A231V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-231 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-231, CHEBI:30015.


name: presenilin-1 sequence variant F237I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Phe-237 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-237, CHEBI:30009.


name: presenilin-1 sequence variant S230I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Ser-230 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-230, CHEBI:30009.


name: presenilin-1 sequence variant P117R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Pro-117 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-117, CHEBI:29952.


name: presenilin-1 sequence variant Y256S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Tyr-256 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-256, CHEBI:29999.


name: presenilin-1 sequence variant Y115H (human)

description: A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Tyr-115 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29979.


name: presenilin-1 sequence variant V261F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Val-261 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-261, CHEBI:29997.


name: presenilin-1 sequence variant L392P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-392 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-392, CHEBI:50342.


name: presenilin-1 sequence variant L85P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-85 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-85, CHEBI:50342.


name: presenilin-1 sequence variant E318G (human)

description: A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-318 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-318, CHEBI:29947.


name: presenilin-1 sequence variant G209A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:46217.


name: presenilin-1 sequence variant R278K (human)

description: A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:29967.


name: presenilin-1 sequence variant S212Y (human)

description: A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Ser-212 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-212, CHEBI:46858.


name: presenilin-1 sequence variant L271V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-271 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-271, CHEBI:30015.


name: presenilin-1 sequence variant L282V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-282 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-282, CHEBI:30015.


name: presenilin-1 sequence variant F177S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Phe-177 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-177, CHEBI:29999.


name: presenilin-1 sequence variant P436S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-436 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-436, CHEBI:29999.


name: presenilin-1 sequence variant I83T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-83 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-83, CHEBI:30013.


name: presenilin-1 sequence variant I143V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:30015.


name: presenilin-1 sequence variant L153V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-153 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-153, CHEBI:30015.


name: presenilin-1 sequence variant L235P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-235 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-235, CHEBI:50342.


name: presenilin-1 sequence variant R352C (human)

description: A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Arg-352 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-352, CHEBI:29950.


name: presenilin-1 sequence variant H163Y (human)

description: A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to His-163 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-163, CHEBI:46858.


name: presenilin-1 sequence variant L174R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-174 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-174, CHEBI:29952.


name: presenilin-1 sequence variant W165G (human)

description: A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Trp-165 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Trp-165, CHEBI:29947.


name: presenilin-1 sequence variant S178P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ser-178 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-178, CHEBI:50342.


name: presenilin-1 sequence variant T116I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Thr-116 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-116, CHEBI:30009.


name: presenilin-1 sequence variant I168del (human)

description: A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Ile-168 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-167, 169-467.


name: presenilin-1 sequence variant Q222H (human)

description: A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Gln-222 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-222, CHEBI:29979.


name: presenilin-1 sequence variant R108Q (human)

description: A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Arg-108 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-108, CHEBI:30011.


name: presenilin-1 sequence variant L250S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Leu-250 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-250, CHEBI:29999.


name: presenilin-1 sequence variant P267S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-267 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-267, CHEBI:29999.


name: presenilin-1 sequence variant L235V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-235 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-235, CHEBI:30015.


name: presenilin-1 sequence variant L262F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-262 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-262, CHEBI:29997.


name: presenilin-1 sequence variant C410Y (human)

description: A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Cys-410 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-410, CHEBI:46858.


name: presenilin-1 sequence variant E273A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Glu-273 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-273, CHEBI:46217.


name: presenilin-1 sequence variant L381V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-381 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-381, CHEBI:30015.


name: presenilin-1 sequence variant L381F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-381 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-381, CHEBI:29997.


name: presenilin-1 sequence variant V96F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Val-96 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-96, CHEBI:29997.


name: presenilin-1 sequence variant C263F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Cys-263 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-263, CHEBI:29997.


name: presenilin-1 sequence variant E273G (human)

description: A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-273 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-273, CHEBI:29947.


name: presenilin-1 sequence variant F388L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-388 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-388, CHEBI:30006.


name: presenilin-1 sequence variant L226R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-226 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-226, CHEBI:29952.


name: presenilin-1 sequence variant R377M (human)

description: A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Arg-377 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-377, CHEBI:16044.


name: presenilin-1 sequence variant E120D (human)

description: A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Glu-120 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-120, CHEBI:29958.


name: presenilin-1 sequence variant A275V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-275 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-275, CHEBI:30015.


name: presenilin-1 sequence variant L235R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-235 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-235, CHEBI:29952.


name: presenilin-1 sequence variant P436Q (human)

description: A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Pro-436 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-436, CHEBI:30011.


name: presenilin-1 sequence variant I408T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-408 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-408, CHEBI:30013.


name: presenilin-1 sequence variant I213F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-213 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-213, CHEBI:29997.


name: presenilin-1 sequence variant P433S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-433 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-433, CHEBI:29999.


name: presenilin-1 sequence variant L424R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:29952.


name: presenilin-1 sequence variant L113Q (human)

description: A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Leu-113 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-113, CHEBI:30011.


name: presenilin-1 sequence variant T291P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Thr-291 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-291, CHEBI:50342.


name: presenilin-1 sequence variant A246P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ala-246 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-246, CHEBI:50342.


name: presenilin-1 sequence variant M139K (human)

description: A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:29967.


name: presenilin-1 sequence variant L250V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-250 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-250, CHEBI:30015.


name: presenilin-1 sequence variant V391F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Val-391 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-391, CHEBI:29997.


name: presenilin-1 sequence variant V94M (human)

description: A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Val-94 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-94, CHEBI:16044.


name: presenilin-1 sequence variant Y115D (human)

description: A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Tyr-115 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29958.


name: presenilin-1 sequence variant L113P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-113 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-113, CHEBI:50342.


name: presenilin-1 sequence variant H214D (human)

description: A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:29958.


name: presenilin-1 sequence variant M139T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:30013.


name: presenilin-1 sequence variant N135Y (human)

description: A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Asn-135 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-135, CHEBI:46858.


name: presenilin-1 sequence variant P117L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Pro-117 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-117, CHEBI:30006.


name: presenilin-1 sequence variant S390I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Ser-390 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-390, CHEBI:30009.


name: presenilin-1 sequence variant L248R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-248 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-248, CHEBI:29952.


name: presenilin-1 sequence variant L282F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-282 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-282, CHEBI:29997.


name: presenilin-1 sequence variant G394V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-394 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-394, CHEBI:30015.


name: presenilin-1 sequence variant G209E (human)

description: A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:29972.


name: presenilin-1 sequence variant L166P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:50342.


name: presenilin-1 sequence variant I213L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Ile-213 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-213, CHEBI:30006.


name: presenilin-1 sequence variant P264L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Pro-264 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-264, CHEBI:30006.


name: presenilin-1 sequence variant L418F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-418 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-418, CHEBI:29997.


name: presenilin-1 sequence variant G384A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Gly-384 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-384, CHEBI:46217.


name: presenilin-1 sequence variant L166H (human)

description: A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:29979.


name: presenilin-1 sequence variant P284L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Pro-284 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-284, CHEBI:30006.


name: presenilin-1 sequence variant I229F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-229 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-229, CHEBI:29997.


name: presenilin-1 sequence variant Y154N (human)

description: A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Tyr-154 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-154, CHEBI:50347.


name: presenilin-1 sequence variant G209R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:29952.


name: presenilin-1 sequence variant P267A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Pro-267 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-267, CHEBI:46217.


name: presenilin-1 sequence variant I238M (human)

description: A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Ile-238 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-238, CHEBI:16044.


name: presenilin-1 sequence variant M146I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Met-146 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-146, CHEBI:30009.


name: presenilin-1 sequence variant Q222R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gln-222 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-222, CHEBI:29952.


name: presenilin-1 sequence variant S390N (human)

description: A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Ser-390 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-390, CHEBI:50347.


name: presenilin-1 sequence variant G378E (human)

description: A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Gly-378 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-378, CHEBI:29972.


name: presenilin-1 sequence variant T147I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Thr-147 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-147, CHEBI:30009.


name: presenilin-1 sequence variant T147P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Thr-147 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-147, CHEBI:50342.


name: presenilin-1 sequence variant T274R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Thr-274 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-274, CHEBI:29952.


name: presenilin-1 sequence variant G183V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-183 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-183, CHEBI:30015.


name: presenilin-1 sequence variant G206S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:29999.


name: presenilin-1 sequence variant A431V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-431 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-431, CHEBI:30015.


name: presenilin-1 sequence variant A431E (human)

description: A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Ala-431 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-431, CHEBI:29972.


name: presenilin-1 sequence variant A409T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-409 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-409, CHEBI:30013.


name: presenilin-1 sequence variant V97L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-97 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-97, CHEBI:30006.


name: presenilin-1 sequence variant L219F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:29997.


name: presenilin-1 sequence variant L226F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-226 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-226, CHEBI:29997.


name: presenilin-1 sequence variant E120K (human)

description: A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-120 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-120, CHEBI:29967.


name: presenilin-1 sequence variant L134R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-134 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-134, CHEBI:29952.


name: presenilin-1 sequence variant Q223R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gln-223 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-223, CHEBI:29952.


name: presenilin-1 sequence variant F237L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-237 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-237, CHEBI:30006.


name: presenilin-1 sequence variant M146L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Met-146 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-146, CHEBI:30006.


name: presenilin-1 sequence variant M233T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30013.


name: presenilin-1 sequence variant M233I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30009.


name: presenilin-1 sequence variant T99A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Thr-99 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-99, CHEBI:46217.


name: presenilin-1 sequence variant L286V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-286 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-286, CHEBI:30015.


name: presenilin-1 sequence variant F386I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Phe-386 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-386, CHEBI:30009.


name: presenilin-1 sequence variant L248P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-248 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-248, CHEBI:50342.


name: presenilin-1 sequence variant G206A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:46217.


name: presenilin-1 sequence variant A136G (human)

description: A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Ala-136 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-136, CHEBI:29947.


name: presenilin-1 sequence variant E280G (human)

description: A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:29947.


name: presenilin-1 sequence variant F105V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:30015.


name: presenilin-1 sequence variant L173F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-173 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-173, CHEBI:29997.


name: presenilin-1 sequence variant D40del (human)

description: A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Asp-40 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-39, 41-467.


name: presenilin-1 sequence variant I439V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ile-439 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-439, CHEBI:30015.


name: presenilin-1 sequence variant E280K (human)

description: A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:29967.


name: presenilin-1 sequence variant E69D (human)

description: A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Glu-69 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-69, CHEBI:29958.


name: presenilin-1 sequence variant H214N (human)

description: A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:50347.


name: presenilin-1 sequence variant R35Q (human)

description: A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Arg-35 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-35, CHEBI:30011.


name: presenilin-1 sequence variant M139V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:30015.


name: presenilin-1 sequence variant S365A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Ser-365 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-365, CHEBI:46217.


name: presenilin-1 sequence variant K239N (human)

description: A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Lys-239 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Lys-239, CHEBI:50347.


name: presenilin-1 sequence variant Y115C (human)

description: A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Tyr-115 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29950.


name: presenilin-1 sequence variant L424V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:30015.


name: presenilin-1 sequence variant L420R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-420 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-420, CHEBI:29952.


name: beta-hexosaminidase subunit alpha isoform h1 (human)

description: A beta-hexosaminidase subunit alpha (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P06865-1.


name: E3 ubiquitin ligase TRIM40 isoform h2 (human)

description: An E3 ubiquitin ligase TRIM40 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6P9F5-2.


positive regulation of amine transport

category: biolink:BiologicalProcess biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


name: positive regulation of L-threonine import across plasma membrane

description: Any process that activates or increases the frequency, rate or extent of L-threonine import into cell.


name: positive regulation of acetylcholine uptake

description: Any process that activates or increases the frequency, rate or extent of the directed movement of acetylcholine into a cell.


name: positive regulation of catecholamine uptake involved in synaptic transmission

description: Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of catecholamine neurotransmitters into a neuron or glial cell.


name: positive regulation of amino acid uptake involved in synaptic transmission

description: Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amino acid neurotransmitters into a neuron or glial cell.


name: positive regulation of glycine secretion, neurotransmission

description: Any process that activates or increases the frequency, rate or extent of glycine secretion, neurotransmission.


name: positive regulation of gamma-aminobutyric acid uptake involved in transmission of nerve impulse

description: Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate) into a neuron or glial cell.


name: positive regulation of glycine import across plasma membrane

description: Any process that activates or increases the frequency, rate or extent of glycine import.


name: positive regulation of L-tyrosine import across plasma membrane

description: Any process that activates or increases the frequency, rate or extent of L-tyrosine import into the cell.


name: positive regulation of L-lysine import across plasma membrane

description: Any process that activates or increases the frequency, rate or extent of L-lysine import into cell.


name: positive regulation of L-methionine import across plasma membrane

description: Any process that activates or increases the frequency, rate or extent of L-methionine import across plasma membrane.


name: corepressor interacting with RBPJ 1 isoform h2 (human)

description: A corepressor interacting with RBPJ 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86X95-2.


glucomannan binding

category: biolink:MolecularActivity biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: Binding to glucomannan.


heteropolysaccharide binding

description: Binding to a heteropolysaccharide, a glycan composed of more than one type of monosaccharide residue.


galactomannan binding

description: Binding to galactomannan.


name: probable E3 ubiquitin-protein ligase DTX3 methylated 1 (human)

description: A probable E3 ubiquitin-protein ligase DTX3 (human) that has been methylated on the residue at the position equivalent to Cys-180 of the amino acid sequence represented by UniProtKB:Q8N9I9-1. Example: UniProtKB:Q8N9I9-1, Cys-180, MOD:00660.


protein FAM32A isoform h3 (human)

A protein FAM32A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y421-3.


name: transient receptor potential cation channel subfamily M member 4 isoform h3 (human)

description: A transient receptor potential cation channel subfamily M member 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8TD43-3.


name: ceramide transfer protein isoform 1 (human)

description: A ceramide transfer protein isoform 1 that is encoded in the genome of human.


description: The chemical reactions and pathways resulting in the formation of ent-pimara-8(14),15-diene.


description: The chemical reactions and pathways involving ent-pimara-8(14),15-diene.


description: The chemical reactions and pathways resulting in the breakdown of ent-pimara-8(14),15-diene.


kallikrein-1 N-glycosylated 4 (human)

A kallikrein-1 (human) that has been N-glycosylated at the residue equivalent to Asn-102 of the amino acid sequence represented by UniProtKB:P06870-1, in which the glycan structure is represented by GlyTouCan:G23484GM. Example: UniProtKB:P06870-1, Asn-102, MOD:00160~GNO:G23484GM.


name: excitatory amino acid transporter 4 isoform h2 (human)

description: An excitatory amino acid transporter 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48664-2.


name: type-1 angiotensin II receptor-associated protein isoform h3 (human)

description: A type-1 angiotensin II receptor-associated protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6RW13-3.


name: sterile alpha motif domain-containing protein 1 methylated 1 (human)

description: A sterile alpha motif domain-containing protein 1 (human) that has been methylated on the residue at the position equivalent to Cys-55 of the amino acid sequence represented by UniProtKB:Q6SPF0. UniProtKB:Q6SPF0, Cys-55, MOD:00660.


name: sterile alpha motif domain-containing protein 1

description: A protein that is a translation product of the human SAMD1 gene or a 1:1 ortholog thereof.


name: alpha-N-acetylgalactosaminidase N-glycosylated 87 (human)

description: An alpha-N-acetylgalactosaminidase (human) that has been N-glycosylated at the residue equivalent to Asn-359 of the amino acid sequence represented by UniProtKB:P17050-1, in which the glycan structure is represented by GlyTouCan:G93284HQ. Example: UniProtKB:P17050-1, Asn-359, MOD:00160~GNO:G93284HQ.


name: partner and localizer of BRCA2 sequence variant L21F (human)

description: A partner and localizer of BRCA2 (human) that has a Phe residue at the position equivalent to Leu-21 of the amino acid sequence represented by UniProtKB:Q86YC2. UniProtKB:Q86YC2, Leu-21, CHEBI:29997.


galectin-8 isoform h1 (human)

A galectin-8 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00214-1.


galectin-12 isoform A (human)

A galectin-12 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96DT0-1.


name: multiple epidermal growth factor-like domains protein 11 isoform h4 (human)

description: A multiple epidermal growth factor-like domains protein 11 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A6BM72-4.


name: multiple epidermal growth factor-like domains protein 11 isoform h3 (human)

description: A multiple epidermal growth factor-like domains protein 11 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A6BM72-3.


name: multiple epidermal growth factor-like domains protein 11 isoform h1 (human)

description: A multiple epidermal growth factor-like domains protein 11 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A6BM72-1.


name: multiple epidermal growth factor-like domains protein 11 isoform h2 (human)

description: A multiple epidermal growth factor-like domains protein 11 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A6BM72-2.


name: centrosomal protein of 57 kDa isoform h2 (human)

description: A centrosomal protein of 57 kDa (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86XR8-2.


ATPase GET3 cysteinylated 1 (human)

An ATPase GET3 (human) that has been cysteinylated on the residue at the position equivalent to Cys-289 of the amino acid sequence represented by UniProtKB:O43681. UniProtKB:O43681, Cys-289, MOD:00765.


protein unc-119 homolog A

A protein that is a translation product of the human UNC119 gene or a 1:1 ortholog thereof.


name: protein unc-119 homolog A isoform A (human)

description: A protein unc-119 homolog A isoform 1 that is encoded in the genome of human.


name: protein unc-119 homolog A isoform B (human)

description: A protein unc-119 homolog A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13432-2.


name: cellular tumor antigen p53 isoform 1 ubiquitinated 1 (human)

description: A cellular tumor antigen p53 isoform 1 ubiquitinated 1 in human. UniProtKB:P04637-1, Lys-291/Lys-292, MOD:01148.


name: cellular tumor antigen p53 ubiquitinated form (human)

description: A cellular tumor antigen p53 (human) that includes at least one ubiquitinated lysine. UniProtKB:P04637, MOD:01148.


name: cellular tumor antigen p53 phosphorylated and ubiquitinated 1 (human)

description: A cellular tumor antigen p53 (human) that has been phosphorylated on the residues at the positions equivalent to Ser-15 and Ser-20 of the amino acid sequence represented by UniProtKB:P04637-1 and that includes at least 1 ubiquitinated lysine. Example: UniProtKB:P04637-1, Ser-15/Ser-20, MOD:00046|MOD:01148.


cellular response to silicon dioxide

description: Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a silicon dioxide stimulus.


name: lymphocyte antigen 6H isoform h1 (human)

description: A lymphocyte antigen 6H (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O94772-1.


nucleolar protein 16 isoform h3 (human)

A nucleolar protein 16 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y3C1-3.


nucleolar protein 16 isoform 1 (human)

A nucleolar protein 16 isoform 1 that is encoded in the genome of human.


nucleolar protein 16 isoform h2 (human)

A nucleolar protein 16 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y3C1-2.


name: nucleolar protein 16 cysteinylated 1 (human)

description: A nucleolar protein 16 (human) that has been cysteinylated on the residue at the position equivalent to Cys-36 of the amino acid sequence represented by UniProtKB:Q9Y3C1-1. Example: UniProtKB:Q9Y3C1-1, Cys-36, MOD:00765.


name: divergent protein kinase domain 1A isoform h2 (human)

description: A divergent protein kinase domain 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5T7M9-2.


name: divergent protein kinase domain 1A isoform 1 (human)

description: A divergent protein kinase domain 1A isoform 1 that is encoded in the genome of human.


name: versican core protein O-glycosylated 251 (human)

description: A versican core protein (human) that has been O-glycosylated at the residue equivalent to Thr-544 of the amino acid sequence represented by UniProtKB:P13611-1, in which the glycan composition is represented by GlyTouCan:G73004SD. Example: UniProtKB:P13611-1, Thr-544, MOD:00005~GNO:G73004SD.


zinc finger protein 785

A protein that is a translation product of the human ZNF785 gene or a 1:1 ortholog thereof.


name: zinc finger protein 785 isoform h1 (human)

description: A zinc finger protein 785 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A8K8V0-1.


name: zinc finger protein 785 isoform h2 (human)

description: A zinc finger protein 785 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A8K8V0-2.


name: regulation of establishment of bipolar cell polarity regulating cell shape

description: Any process that modulates the rate, frequency or extent of the establishment of bipolar cell polarity that contributes to the shape of a cell.


name: positive regulation of establishment of bipolar cell polarity regulating cell shape

description: Any process that increases the rate, frequency or extent of the establishment of bipolar cell polarity that regulates the shape of a cell.


name: electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform h1 (human)

description: An electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UJS0-1.


olfactory placode maturation

description: A developmental process, independent of morphogenetic (shape) change, that is required for the olfactory placode to attain its fully functional state. The olfactory placode is a thickening of the neural ectoderm in the head region of the vertebrate embryo which develops into the olfactory region of the nasal cavity.


prolargin O-glycosylated 1 (human)

A prolargin (human) that has been O-glycosylated at the residue equivalent to Ser-68 of the amino acid sequence represented by UniProtKB:P51888-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P51888-1, Ser-68, MOD:00002~GNO:G43417UB.


name: prolargin, signal peptide removed N-acetylaminoglucosyl-asparagine form (human)

description: A prolargin (human) that has had the signal peptide removed and that includes at least one N-acetylaminoglucosyl-asparagine. UniProtKB:P51888, 21-382, MOD:00831.


name: prolargin, signal peptide removed N-glycosylasparagine form (human)

description: A prolargin (human) that has had the signal peptide removed and that includes at least 1 N-glycosylated asparagine. UniProtKB:P51888, 21-382, MOD:00160.


prolargin O-glycosylated 7 (human)

A prolargin (human) that has been O-glycosylated at the residue equivalent to Thr-56 of the amino acid sequence represented by UniProtKB:P51888-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P51888-1, Thr-56, MOD:00005~GNO:G58001LT.


prolargin O-glycosylated 2 (human)

A prolargin (human) that has been O-glycosylated at the residue equivalent to Thr-43 of the amino acid sequence represented by UniProtKB:P51888-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P51888-1, Thr-43, MOD:00005~GNO:G53434XO.


prolargin O-glycosylated 4 (human)

A prolargin (human) that has been O-glycosylated at the residue equivalent to Thr-56 of the amino acid sequence represented by UniProtKB:P51888-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P51888-1, Thr-56, MOD:00005~GNO:G29068FM.


prolargin O-glycosylated 5 (human)

A prolargin (human) that has been O-glycosylated at the residue equivalent to Thr-56 of the amino acid sequence represented by UniProtKB:P51888-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P51888-1, Thr-56, MOD:00005~GNO:G43417UB.


prolargin O-glycosylated 3 (human)

A prolargin (human) that has been O-glycosylated at the residue equivalent to Thr-43 of the amino acid sequence represented by UniProtKB:P51888-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P51888-1, Thr-43, MOD:00005~GNO:G58001LT.


complement component C9

A protein that is a translation product of the human C9 gene or a 1:1 ortholog thereof.


name: complement component C9 O-glycosylated 5 (human)

description: A complement component C9 (human) that has been O-glycosylated at the residue equivalent to Thr-32 of the amino acid sequence represented by UniProtKB:P02748-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02748-1, Thr-32, MOD:00005~GNO:G29068FM.


name: complement component C9, signal peptide removed form (human)

description: A complement component C9 (human) that has had the signal peptide removed. UniProtKB:P02748, 22-559.


name: complement component C9 O-glycosylated 1 (human)

description: A complement component C9 (human) that has been O-glycosylated at the residue equivalent to Ser-26 of the amino acid sequence represented by UniProtKB:P02748-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P02748-1, Ser-26, MOD:00002~GNO:G58001LT.


name: complement component C9 O-glycosylated 3 (human)

description: A complement component C9 (human) that has been O-glycosylated at the residue equivalent to Thr-258 of the amino acid sequence represented by UniProtKB:P02748-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02748-1, Thr-258, MOD:00005~GNO:G29068FM.


name: complement component C9 N-glycosylated 2 (human)

description: A complement component C9 (human) that has been N-glycosylated at the residue equivalent to Asn-415 of the amino acid sequence represented by UniProtKB:P02748-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P02748-1, Asn-415, MOD:00160~GNO:G00912UN.


name: complement component C9 O-glycosylated 6 (human)

description: A complement component C9 (human) that has been O-glycosylated at the residue equivalent to Thr-32 of the amino acid sequence represented by UniProtKB:P02748-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02748-1, Thr-32, MOD:00005~GNO:G43417UB.


name: complement component C9 O-glycosylated 2 (human)

description: A complement component C9 (human) that has been O-glycosylated at the residue equivalent to Thr-24 of the amino acid sequence represented by UniProtKB:P02748-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02748-1, Thr-24, MOD:00005~GNO:G43417UB.


name: complement component C9 O-glycosylated 4 (human)

description: A complement component C9 (human) that has been O-glycosylated at the residue equivalent to Thr-258 of the amino acid sequence represented by UniProtKB:P02748-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02748-1, Thr-258, MOD:00005~GNO:G43417UB.


name: complement component C9 N-glycosylated 1 (human)

description: A complement component C9 (human) that has been N-glycosylated at the residue equivalent to Asn-277 of the amino acid sequence represented by UniProtKB:P02748-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P02748-1, Asn-277, MOD:00160~GNO:G00912UN.


regulator of G-protein signaling 5

A protein that is a translation product of the human RGS5 gene or a 1:1 ortholog thereof.


name: regulator of G-protein signaling 5 isoform h3 (human)

description: A regulator of G-protein signaling 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O15539-3.


name: regulator of G-protein signaling 5 isoform 1 (human)

description: A regulator of G-protein signaling 5 isoform 1 that is encoded in the genome of human.


name: regulator of G-protein signaling 5 isoform h2 (human)

description: A regulator of G-protein signaling 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O15539-2.


name: regulator of G-protein signaling 5 cysteinylated 1 (human)

description: A regulator of G-protein signaling 5 (human) that has been cysteinylated on the residue at the position equivalent to Cys-12 of the amino acid sequence represented by UniProtKB:O15539-1. Example: UniProtKB:O15539-1, Cys-12, MOD:00765.


uromodulin N-glycosylated 204 (human)

A uromodulin (human) that has been N-glycosylated at the residue equivalent to Asn-396 of the amino acid sequence represented by UniProtKB:P07911-1, in which the glycan structure is represented by GlyTouCan:G32659RY. Example: UniProtKB:P07911-1, Asn-396, MOD:00160~GNO:G32659RY.


procollagen C-endopeptidase enhancer 2

A protein that is a translation product of the human PCOLCE2 gene or a 1:1 ortholog thereof.


name: procollagen C-endopeptidase enhancer 2 O-glycosylated 1 (human)

description: A procollagen C-endopeptidase enhancer 2 (human) that has been O-glycosylated at the residue equivalent to Thr-293 of the amino acid sequence represented by UniProtKB:Q9UKZ9-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:Q9UKZ9-1, Thr-293, MOD:00005~GNO:G29068FM.


name: procollagen C-endopeptidase enhancer 2, signal peptide removed form (human)

description: A procollagen C-endopeptidase enhancer 2 (human) that has had the signal peptide removed. UniProtKB:Q9UKZ9, 24-415.


name: procollagen C-endopeptidase enhancer 2 O-glycosylated 2 (human)

description: A procollagen C-endopeptidase enhancer 2 (human) that has been O-glycosylated at the residue equivalent to Thr-293 of the amino acid sequence represented by UniProtKB:Q9UKZ9-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9UKZ9-1, Thr-293, MOD:00005~GNO:G43417UB.


name: zinc finger protein 513 isoform h2 (human)

description: A zinc finger protein 513 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N8E2-2.


name: prolyl 3-hydroxylase 1 deaminated 3 (human)

description: A prolyl 3-hydroxylase 1 (human) that has been deaminated on the residue at the position equivalent to Asn-540 of the amino acid sequence represented by UniProtKB:Q32P28-1. Example: UniProtKB:Q32P28-1, Asn-540, MOD:00684.


name: coiled-coil domain-containing protein 144A isoform h1 (human)

description: A coiled-coil domain-containing protein 144A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A2RUR9-1.


name: histone H2B type 1-K, initiator methionine removed acetylated 4 (human)

description: A histone H2B type 1-K (human) that has had the initiator methionine removed and that has been acetylated at the position equivalent to Lys-6 of the amino acid sequence represented by UniProtKB:O60814. UniProtKB:O60814, 2-126, Lys-6, MOD:00064.


name: sodium-coupled neutral amino acid transporter 5 isoform h1 (human)

description: A sodium-coupled neutral amino acid transporter 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WUX1-1.


name: cytochrome b-c1 complex subunit 2, mitochondrial isoform 1 (human)

description: A cytochrome b-c1 complex subunit 2, mitochondrial isoform 1 that is encoded in the genome of human.


name: aryl hydrocarbon receptor cysteinylated 2 (human)

description: An aryl hydrocarbon receptor (human) that has been cysteinylated on the residue at the position equivalent to Cys-741 of the amino acid sequence represented by UniProtKB:P35869. UniProtKB:P35869, Cys-741, MOD:00765.


name: aryl hydrocarbon receptor methylated 2 (human)

description: An aryl hydrocarbon receptor (human) that has been methylated on the residue at the position equivalent to Cys-101 of the amino acid sequence represented by UniProtKB:P35869. UniProtKB:P35869, Cys-101, MOD:00660.


name: aryl hydrocarbon receptor methylated 1 (human)

description: An aryl hydrocarbon receptor (human) that has been methylated on the residue at the position equivalent to Cys-764 of the amino acid sequence represented by UniProtKB:P35869. UniProtKB:P35869, Cys-764, MOD:00660.


name: aryl hydrocarbon receptor cysteinylated 1 (human)

description: An aryl hydrocarbon receptor (human) that has been cysteinylated on the residue at the position equivalent to Cys-764 of the amino acid sequence represented by UniProtKB:P35869. UniProtKB:P35869, Cys-764, MOD:00765.


name: zinc finger SWIM domain-containing protein 4

description: A protein that is a translation product of the human ZSWIM4 gene or a 1:1 ortholog thereof.


name: zinc finger SWIM domain-containing protein 4 methylated 1 (human)

description: A zinc finger SWIM domain-containing protein 4 (human) that has been methylated on the residue at the position equivalent to Cys-419 of the amino acid sequence represented by UniProtKB:Q9H7M6. UniProtKB:Q9H7M6, Cys-419, MOD:00660.


name: fibroblast growth factor receptor 2 isoform h12, signal peptide removed form (human)

description: A fibroblast growth factor receptor 2 isoform h12 (human) that has had the signal peptide removed. UniProtKB:P21802-18, 22-820.


name: cadherin-related family member 5 isoform h2 (human)

description: A cadherin-related family member 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HBB8-2.


name: cadherin-related family member 5 isoform h3 (human)

description: A cadherin-related family member 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HBB8-4.


name: cadherin-related family member 5 isoform h1 (human)

description: A cadherin-related family member 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HBB8-1.


name: cadherin-related family member 5 O-glycosylated 3 (human)

description: A cadherin-related family member 5 (human) that has been O-glycosylated at the residue equivalent to Thr-650 of the amino acid sequence represented by UniProtKB:Q9HBB8-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9HBB8-1, Thr-650, MOD:00005~GNO:G43417UB.


name: cadherin-related family member 5 O-glycosylated 2 (human)

description: A cadherin-related family member 5 (human) that has been O-glycosylated at the residue equivalent to Thr-640 of the amino acid sequence represented by UniProtKB:Q9HBB8-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9HBB8-1, Thr-640, MOD:00005~GNO:G43417UB.


name: cadherin-related family member 5 O-glycosylated 1 (human)

description: A cadherin-related family member 5 (human) that has been O-glycosylated at the residue equivalent to Thr-609 of the amino acid sequence represented by UniProtKB:Q9HBB8-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:Q9HBB8-1, Thr-609, MOD:00005~GNO:G53434XO.


name: negative regulation of platelet formation

description: Any process that stops, prevents or reduces the frequency, rate or extent of platelet formation.


name: positive regulation of exodeoxyribonuclease activity

description: Any process that activates or increases the frequency, rate or extent of exodeoxyribonuclease activity.


serine/threonine-protein kinase SBK1

A protein that is a translation product of the human SBK1 gene or a 1:1 ortholog thereof.


sentrin-specific protease 3

A protein that is a translation product of the human SENP3 gene or a 1:1 ortholog thereof.


adenylate kinase 9 isoform h5 (human)

An adenylate kinase 9 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5TCS8-5.


name: Kv channel-interacting protein 2 isoform h8 (human)

description: A Kv channel-interacting protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NS61-8.


name: Kv channel-interacting protein 1 isoform 1 (human)

description: A Kv channel-interacting protein 1 isoform 1 that is encoded in the genome of human.


name: uncharacterized protein C1orf54 O-glycosylated 1 (human)

description: An uncharacterized protein C1orf54 (human) that has been O-glycosylated at the residue equivalent to Thr-51 of the amino acid sequence represented by UniProtKB:Q8WWF1-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q8WWF1-1, Thr-51, MOD:00005~GNO:G43417UB.


name: leukotriene B4 receptor 2 phosphorylated 1 (human)

description: A leukotriene B4 receptor 2 (human) that has been phosphorylated on the residue at the position equivalent to Thr-324 of the amino acid sequence represented by UniProtKB:Q9NPC1. UniProtKB:Q9NPC1, Thr-324, MOD:00047.


name: NEDD8-activating enzyme E1 regulatory subunit isoform h4 (human)

description: A NEDD8-activating enzyme E1 regulatory subunit (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13564-4.


cellular bud neck septin collar

category: biolink:CellularComponent biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: A tubular structure with flared ends, shaped like an hourglass and composed of highly ordered arrays of septin filaments, that forms at the bud neck of a dividing cell. In S. cerevisiae, this structure is located at the bud neck throughout most of the cell cycle and the septins are fixed within the structure, not exchanging with soluble septins. This septin structure acts as a scaffold for other proteins that function at the bud neck.


name: zinc finger protein 182 isoform h1 (human)

description: A zinc finger protein 182 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P17025-1.


name: bifunctional polynucleotide phosphatase/kinase isoform h2 (human)

description: A bifunctional polynucleotide phosphatase/kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96T60-2.


name: inositol monophosphatase 1 isoform h2 (human)

description: An inositol monophosphatase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29218-2.


inositol monophosphatase 1

A protein that is a translation product of the human IMPA1 gene or a 1:1 ortholog thereof.


name: inositol monophosphatase 1 isoform h3 (human)

description: An inositol monophosphatase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29218-3.


name: inositol monophosphatase 1 isoform h1 (human)

description: An inositol monophosphatase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29218-1.


somatotropin hormone family member

A protein that is a standalone version of the Hormone_1 domain (Pfam:PF00103). In the immature form, the domain is preceded by a signal peptide.


name: growth hormone variant isoform h2 (human)

description: A growth hormone variant (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01242-2.


name: somatotropin, signal peptide removed form (human)

description: A somatotropin (human) that has had the signal peptide removed. UniProtKB:P01241, 27-217.


name: growth hormone variant isoform h3 (human)

description: A growth hormone variant (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01242-3.


chorionic somatomammotropin hormone 1

A somatotropin hormone family member that is a translation product of the human CSH1 gene or a 1:1 ortholog thereof.


somatotropin isoform h3 (human)

A somatotropin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01241-3.


growth hormone variant

A somatotropin hormone family member that is a translation product of the human GH2 gene or a 1:1 ortholog thereof.


prolactin

A somatotropin hormone family member that is a translation product of the human PRL gene or a 1:1 ortholog thereof.


somatotropin isoform h1 (human)

A somatotropin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01241-1.


name: growth hormone variant, signal peptide removed form (human)

description: A growth hormone variant (human) that has had the signal peptide removed. UniProtKB:P01242, 27-217.


name: growth hormone variant isoform h4 (human)

description: A growth hormone variant (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01242-4.


chorionic somatomammotropin hormone 2

A somatotropin hormone family member that is a translation product of the human CSH2 gene or a 1:1 ortholog thereof.


name: chorionic somatomammotropin hormone-like 1 isoform h3 (human)

description: A chorionic somatomammotropin hormone-like 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14406-3.


name: growth hormone variant isoform h1 (human)

description: A growth hormone variant (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01242-1.


name: chorionic somatomammotropin hormone-like 1 isoform h2 (human)

description: A chorionic somatomammotropin hormone-like 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14406-2.


name: chorionic somatomammotropin hormone 2 isoform h2 (human)

description: A chorionic somatomammotropin hormone 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P0DML3-2.


name: chorionic somatomammotropin hormone 2 isoform h1 (human)

description: A chorionic somatomammotropin hormone 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P0DML3-1.


name: chorionic somatomammotropin hormone-like 1 isoform h4 (human)

description: A chorionic somatomammotropin hormone-like 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14406-4.


name: chorionic somatomammotropin hormone 1, signal peptide removed form (human)

description: A chorionic somatomammotropin hormone 1 (human) that has had the signal peptide removed. UniProtKB:P0DML2, 27-217.


name: chorionic somatomammotropin hormone-like 1 isoform h1 (human)

description: A chorionic somatomammotropin hormone-like 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14406-1.


name: prolactin, signal peptide removed form (human)

description: A prolactin (human) that has had the signal peptide removed. UniProtKB:P01236, 29-227.


name: chorionic somatomammotropin hormone-like 1

description: A somatotropin hormone family member that is a translation product of the human CSHL1 gene or a 1:1 ortholog thereof.


name: chorionic somatomammotropin hormone 2 isoform h3 (human)

description: A chorionic somatomammotropin hormone 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P0DML3-3.


somatotropin isoform h4 (human)

A somatotropin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01241-4.


somatotropin

A somatotropin hormone family member that is a translation product of the human GH1 gene or a 1:1 ortholog thereof.


somatotropin isoform h2 (human)

A somatotropin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01241-2.


somatotropin isoform h5 (human)

A somatotropin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01241-5.


name: protein diaphanous homolog 2 deaminated 1 (human)

description: A protein diaphanous homolog 2 (human) that has been deaminated on the residue at the position equivalent to Asn-319 of the amino acid sequence represented by UniProtKB:O60879-1. Example: UniProtKB:O60879-1, Asn-319, MOD:00684.


name: protein diaphanous homolog 2 isoform h2 phosphorylated 1 (human)

description: A protein diaphanous homolog 2 isoform h2 (human) that has been phosphorylated on the residue at the position equivalent to Ser-196 of the amino acid sequence represented by UniProtKB:O60879-2. UniProtKB:O60879-2, Ser-196, MOD:00046.


name: protein diaphanous homolog 2 deaminated 2 (human)

description: A protein diaphanous homolog 2 (human) that has been deaminated on the residue at the position equivalent to Asn-200 of the amino acid sequence represented by UniProtKB:O60879-1. Example: UniProtKB:O60879-1, Asn-200, MOD:00684.


name: protein diaphanous homolog 2 isoform h3 (human)

description: A protein diaphanous homolog 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60879-3.