name: protein mono-ADP-ribosyltransferase PARP4 deaminated 2 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been deaminated on the residue at the position equivalent to Asn-1081 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Asn-1081, MOD:00684.


name: protein mono-ADP-ribosyltransferase PARP4 methylated 2 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been methylated on the residue at the position equivalent to Cys-1019 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Cys-1019, MOD:00660.


name: protein mono-ADP-ribosyltransferase PARP4 deaminated 4 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been deaminated on the residue at the position equivalent to Asn-62 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Asn-62, MOD:00684.


name: protein mono-ADP-ribosyltransferase PARP4 deaminated 5 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been deaminated on the residue at the position equivalent to Asn-155 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Asn-155, MOD:00684.


name: protein mono-ADP-ribosyltransferase PARP4 hydroxylated 1 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been hydroxylated on the residue at the position equivalent to Trp-954 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Trp-954, MOD:01622.


name: protein mono-ADP-ribosyltransferase PARP4 cysteinylated 1 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been cysteinylated on the residue at the position equivalent to Cys-880 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Cys-880, MOD:00765.


name: protein mono-ADP-ribosyltransferase PARP4 deaminated 3 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been deaminated on the residue at the position equivalent to Gln-60 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Gln-60, MOD:00685.


name: protein mono-ADP-ribosyltransferase PARP4 methylated 1 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been methylated on the residue at the position equivalent to Cys-503 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Cys-503, MOD:00660.


name: protein mono-ADP-ribosyltransferase PARP4 phosphorylated 1 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been phosphorylated on the residue at the position equivalent to Ser-1274 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Ser-1274, MOD:00046.


name: protein mono-ADP-ribosyltransferase PARP4 cysteinylated 2 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been cysteinylated on the residue at the position equivalent to Cys-1499 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Cys-1499, MOD:00765.


name: protein mono-ADP-ribosyltransferase PARP4 deaminated 6 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been deaminated on the residue at the position equivalent to Asn-368 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Asn-368, MOD:00684.


viscumneoside III

A viscumneoside that is homoeriodictyol in which the hydroxy group at position 7 has been converted into the corresponding beta-D-glucopyranoside, the 2-hydroxy group of which has been converted to its beta-D-apiofuranoside derivative. Found in Viscum coloratum, an evergreen hemiparasitic plant whose stems and leaves are used in traditional Chinese medicine for the treatment of rheumatism.


ethyl 5-hexenoate

The fatty acid ethyl ester of 5-hexenoic acid.


An enone with a trimethylcyclohexenyl substituent at C-1.


name: baculoviral IAP repeat-containing protein 6 methylated 11 (human)

description: A baculoviral IAP repeat-containing protein 6 (human) that has been methylated on the residue at the position equivalent to Cys-1570 of the amino acid sequence represented by UniProtKB:Q9NR09. UniProtKB:Q9NR09, Cys-1570, MOD:00660.


CD44 antigen isoform h3 (human)

A CD44 antigen (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:P16070-3.


NEROLIDIOL

A (6Z)-nerolidol in which the hydroxy group at positon 3 adopts an S-configuration.


A nerolidol in which the double bond at position 6 adopts a cis-configuration.


A (6Z)-nerolidol in which the hydroxy group at positon 3 adopts an R-configuration.


cariprazine

An N-alkylpiperazine that is N,N-dimethyl-N'-{trans-4-[2-(piperazin-1-yl)ethyl]cyclohexyl}urea substituted at position 4 on the piperazine ring by a 2,3-dichlorophenyl group. Used (as the hydrochloride salt) for treatment of schizophrenia and bipolar disorder.


trans-Ned 19

A member of the class of beta-carbolines that is 2,3,4,9-tetrahydro-1H-beta-carboline-3-carboxylic acid in which one of the methylene protons at position 1 has been replaced by a 3-{[4-(2-fluorophenyl)piperazin-1-yl]methyl}-4-methoxyphenyl group.


DEXTROFLOXACINE

The (R)-enantiomer of ofloxacin.


Either of the two diastereoisomers of 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the imidazol-1-ylmethyl group and the aryloxymethyl group are in a cis relationship to each other - i.e. they are both on the same side of the plane of the dioxolane ring. The antifungal drug ketoconazole is a racemic mixture of the two cis diastereoisomers.


Either of the two diastereoisomers of 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the imidazol-1-ylmethyl group and the aryloxymethyl group are in a trans relationship to each other - i.e. they are on opposite sides of the plane of the dioxolane ring. (N.B. The antifungal drug ketoconazole is a racemic mixture of the two cis diastereoisomers.)


(S)-GATIFLOXACIN

The (S)-enantiomer of gatifloxacin.


An N-alkylpiperazine that is 1-(3-chlorophenyl)piperazine carrying a 3,3-diphenyl-2-hydroxyprop-1-yl group at position 4. A selective h5-HT1D antagonist, displaying 60-fold selectivity over h5-HT1B, and exhibiting little or no affinity for a range of other receptor types.


A member of the class of imidazopyrimidines that is imidazo[1,2-a]pyrimidine substituted by a [4-(3,4-dichlorophenyl)piperazin-1-yl]acetyl group at position 3.


A biphenyl that is 4-chloro-1,1'-biphenyl substituted by a (4-{4-[(4-{[(2R)-4-(dimethylamino)-1-(phenylsulfanyl)butan-2-yl]amino}-3-nitrobenzene-1-sulfonyl)carbamoyl]phenyl}piperazin-1-yl)methyl group at position 2'. It is a BH3-mimetic drug which targets the anti-apoptotic B-cell lymphoma-2 (BCL-2) family proteins, including BCL-2, BCL-xL, and BCL-w, and induces apoptosis in cancer cells.


A 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the dioxolane ring has R configuration at positions 2 and 4.


(R)-GATIFLOXACIN

The (R)-enantiomer of gatifloxacin.


name: PDGF receptor tyrosine kinase inhibitor III

description: An N-arylpiperazine that is piperazine in which the hydrogen attached to the nitrogen at position 1 is replaced by a (4-phenoxyphenyl)aminocarbonyl group, while the hydrogen attached to the nitrogen at position 4 is replaced by a 6,7-dimethoxyquinazolin-4-yl group. It is an inhibitor of tyrosine kinases FLT3, PDGFR and KIT.


sulfociprofloxacin

An organosulfonic acid that is ciprofloxacin  carrying a sulfo group at position 4 of the piperazine ring. It is a metabolite of ciprofloxacin.


(S)-TEMAFLOXACIN

1-(2,4-difluorophenyl)-6-fluoro-7-(3-methylpiperazin-1-yl)-4-oxo-1,4-dihydroquinoline-3-carboxylic acid that has R configuration.


(S)-temafloxacin

1-(2,4-difluorophenyl)-6-fluoro-7-(3-methylpiperazin-1-yl)-4-oxo-1,4-dihydroquinoline-3-carboxylic acid that has S configuration.


terconazole

A dioxolane that is 1,3-dioxolane which is substituted at positions 2, 2, and 4 by 2,4-dichlorophenyl, 1H-1,2,4-triazol-1-ylmethyl, and [4-(4-isopropylpiperazin-1-yl)phenoxy]methyl groups, respectively.


An aromatic amide obtained by formal condensation of the amino group of 2-(6-methoxy-1-oxo-1,3-dihydro-2H-isoindol-2-yl)-1,3-thiazole-4-carboxylic acid with the primary amino group of 4-(piperazin-1-yl)pyridin-3-amine.


A cis-1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine which dioxolane moiety has (2R,4S)-configuration.


compound 31 [PMID: 24809814]

A member of the class of piperazines that is (R)-2-methylpiperazine in which the two amino hydrogens at positions 1 and 4 are replaced by 5-cyanopyridin-2-yl and 4-benzyl-7-chlorophthalazin-1-yl groups respectively.


A 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the dioxolane ring has S configuration at positions 2 and 4.


TERCONAZOLE

A 1-(4-{[2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)-4-isopropylpiperazine in which positions 2 and 4 of the 1,3-dioxolane moiety have R and S configuration, respectively.


metabolite of ciprofloxacin


name: E3 ubiquitin-protein ligase Mdm2 phosphorylated 2 (human)

description: An E3 ubiquitin-protein ligase Mdm2 (human) that has been post-translationally modified to include phosphoserine at positions 166 and 188 of the amino acid sequence represented by UniProtKB:Q00987. UniProtKB:Q00987, Ser-166/Ser-188, MOD:00046.


isobutyryl-CoA dehydrogenase deficiency

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).


NAD kinase isoform h3 (human)

An NAD 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:O95544-3.


A 2,3-diacyl-sn-glycerol in which both acyl groups are specified as lauroyl (dodecanoyl).


diacylglycerol 24:0

Any diglyceride that is glycerol in which any two of the hydroxy groups have been acylated by saturated fatty acids which together contain a total of 24 carbon atoms.


didodecanoylglycerol

A diglyceride that is glycerol in which any two of the hydroxy groups have undergone formal esterification by condensation with dodecanoic (lauric) acid. Formula C27H52O5. For the structure shown, either R1 = H and R2 = dodecanoyl or R1 = dodecanoyl and R2 = H.


name: DNA-binding protein SATB2 isoform h2 (human)

description: A DNA-binding protein SATB2 (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:Q9UPW6-2.


name: DNA-binding protein SATB2 deaminated 1 (human)

description: A DNA-binding protein SATB2 (human) that has been deaminated on the residue at the position equivalent to Gln-301 of the amino acid sequence represented by UniProtKB:Q9UPW6-1. Example: UniProtKB:Q9UPW6-1, Gln-301, MOD:00685.


name: DNA-binding protein SATB2 isoform 1 (human)

description: A DNA-binding protein SATB2 isoform 1 that is encoded in the genome of human.


name: DNA-binding protein SATB2 sumoylated 1 (human)

description: A DNA-binding protein SATB2 (human) that has been sumoylated on the residues at the positions equivalent to Lys-233 and Lys-350 of the amino acid sequence represented by UniProtKB:Q9UPW6-1. Example: UniProtKB:Q9UPW6-1, Lys-233/Lys-350, MOD:01149.


Metastatic rectal adenocarcinoma

description: An adenocarcinoma that arises from the rectum and has metastasized to another anatomic site.


name: Locally Advanced Unresectable Rectal Adenocarcinoma

description: A rectal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Rectal Adenocarcinoma

description: Rectal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


BCOR-CCNB3 sarcoma

description: A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.


name: influenza virus NS1A-binding protein methylated 3 (human)

description: An influenza virus NS1A-binding protein (human) that has been methylated on the residue at the position equivalent to Cys-134 of the amino acid sequence represented by UniProtKB:Q9Y6Y0. UniProtKB:Q9Y6Y0, Cys-134, MOD:00660.


name: general vesicular transport factor p115 deaminated 3 (human)

description: A general vesicular transport factor p115 (human) that has been deaminated on the residue at the position equivalent to Asn-184 of the amino acid sequence represented by UniProtKB:O60763-1. Example: UniProtKB:O60763-1, Asn-184, MOD:00684.


name: stromal membrane-associated protein 1 isoform h2 (human)

description: A stromal membrane-associated protein 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:Q8IYB5-2.


name: mixed phenotype acute leukemia with BCR-ABL1

description: An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.


name: Acute Leukemia of Ambiguous Lineage with Defining Genetic Abnormalities

description: Acute leukemia of ambiguous lineage characterized by the presence of defined genetic alterations.


name: mixed phenotype acute leukemia with t(v;11q23.3)

description: A rare mixed phenotype acute leukemia in which the blasts carry a translocation between the KMT2A gene at 11q23.3 and another gene partner. The prognosis is usually unfavorable.


name: Acute Leukemia of Ambiguous Lineage with BCL11B Rearrangement

description: A rare acute leukemia of ambiguous lineage characterized by the presence of BCL11B gene rearrangement.


name: BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome

description: An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA1 gene. Patients are at high risk of developing breast cancer, ovarian cancer, and other cancers including cervical, endometrial, fallopian tube, and colon cancer.


name: PUM1-associated developmental disability-ataxia-seizure syndrome


name: developmental and epileptic encephalopathy, 2

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.


name: spastic paraplegia-severe developmental delay-epilepsy syndrome

description: Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.


name: infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

description: A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.


name: focal epilepsy-intellectual disability-cerebro-cerebellar malformation

description: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed.


name: Mowat-Wilson syndrome due to a ZEB2 point mutation


name: autosomal recessive spinocerebellar ataxia 15

description: Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.


Rett syndrome, congenital variant

description: An autosomal dominant condition caused by mutation(s) in the FOXG1 gene, encoding forkhead box protein G1. It is the most severe form of Rett syndrome, and typically manifests within the first three months of life.


name: X-linked dominant intellectual disability-epilepsy syndrome


name: Mowat-Wilson syndrome due to monosomy 2q22


FOXG1 disorder

description: A monogenic disease that has material basis in mutation in the FOXG1 gene.


name: developmental and epileptic encephalopathy, 8


name: developmental and epileptic encephalopathy, 9

description: Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.


name: syndromic X-linked intellectual disability Hedera type

description: X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.


name: autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome


name: intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

description: IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).


name: neuronal ceroid lipofuscinosis 8 northern epilepsy variant

description: Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.


name: epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

description: An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).


name: severe neonatal-onset encephalopathy with microcephaly

description: An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.


name: X-linked intellectual disability-epilepsy syndrome


name: epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features


name: epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features


name: neonatal-onset encephalopathy with rigidity and seizures


name: autosomal recessive spinocerebellar ataxia 12

description: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.


name: global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome


name: FOXG1 syndrome due to intragenic alteration


name: spinocerebellar ataxia, autosomal recessive 23


name: developmental and epileptic encephalopathy, 23


name: neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination

description: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).


name: polyhydramnios, megalencephaly, and symptomatic epilepsy


name: developmental and epileptic encephalopathy, 73


protein Wnt-10a methylated 1 (human)

A protein Wnt-10a (human) that has been methylated on the residue at the position equivalent to Cys-416 of the amino acid sequence represented by UniProtKB:Q9GZT5. UniProtKB:Q9GZT5, Cys-416, MOD:00660.


GPN-loop GTPase 1 isoform h4 (human)

A GPN-loop GTPase 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:Q9HCN4-4.


name: serine/threonine-protein kinase SMG1 phosphorylated 2 (human)

description: A serine/threonine-protein kinase SMG1 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-662 of the amino acid sequence represented by UniProtKB:Q96Q15-1. Example: UniProtKB:Q96Q15-1, Tyr-662, MOD:00048.


name: apolipoprotein B-100 deaminated 21 (human)

description: An apolipoprotein B-100 (human) that has been deaminated on the residue at the position equivalent to Gln-2263 of the amino acid sequence represented by UniProtKB:P04114. UniProtKB:P04114, Gln-2263, MOD:00685.


name: presenilin-1 sequence variant I143M (human)

description: A presenilin-1 sequence variant (human) that has a Met 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:16044.


presenilin-1 sequence variant (human)

A presenilin-1 (human) that has at least one amino acid residue that differs from the corresponding residue found in another presenilin-1 (human) when such a difference arises as the result of genetic differences, i.e., different alleles of presenilin-1 (human). Operationally, this means the sequence representation of the presenilin-1 (human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represented by UniProtKB:P49768-1.


name: presenilin-1 sequence variant A246E (human)

description: A presenilin-1 sequence variant (human) that has a Glu 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:29972.


name: presenilin-1 sequence variant G209V (human)

description: A presenilin-1 sequence variant (human) that has a Val 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:30015.


name: presenilin-1 sequence variant M233L (human)

description: A presenilin-1 sequence variant (human) that has a Leu 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:30006.


name: presenilin-1 sequence variant L171P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-171 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-171, CHEBI:50342.


name: presenilin-1 sequence variant N135D (human)

description: A presenilin-1 sequence variant (human) that has an Asp 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:29958.


name: presenilin-1 sequence variant E184G (human)

description: A presenilin-1 sequence variant (human) that has a Gly 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:29947.


name: presenilin-1 sequence variant L424F (human)

description: A presenilin-1 sequence variant (human) that has a Phe 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:29997.


name: presenilin-1 sequence variant L173W (human)

description: A presenilin-1 sequence variant (human) that has a Trp 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:29954.


name: presenilin-1 sequence variant L286P (human)

description: A presenilin-1 sequence variant (human) that has a Pro 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:50342.


name: presenilin-1 sequence variant F205L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-205 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-205, CHEBI:30006.


name: presenilin-1 sequence variant L262V (human)

description: A presenilin-1 sequence variant (human) that has a Val 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:30015.


name: presenilin-1 sequence variant A79V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-79 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-79, CHEBI:30015.


name: presenilin-1 sequence variant M233V (human)

description: A presenilin-1 sequence variant (human) that has a Val 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:30015.


name: presenilin-1 sequence variant F176L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-176 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-176, CHEBI:30006.


name: presenilin-1 sequence variant V412I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Val-412 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-412, CHEBI:30009.


name: presenilin-1 sequence variant D333G (human)

description: A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Asp-333 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asp-333, CHEBI:29947.


name: presenilin-1 sequence variant R220P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Arg-220 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-220, CHEBI:50342.


name: presenilin-1 sequence variant A260V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-260 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-260, CHEBI:30015.


name: presenilin-1 sequence variant W165C (human)

description: A presenilin-1 sequence variant (human) that has a Cys 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:29950.


name: presenilin-1 sequence variant R269G (human)

description: A presenilin-1 sequence variant (human) that has a Gly 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:29947.


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: Lung Large Cell Carcinoma by AJCC v7 Stage

description: A term that refers to the staging of large cell lung carcinoma, following the rules of the TNM AJCC v7 classification system.


name: Stage IIA Lung Large Cell Carcinoma AJCC v7

description: Stage IIA includes: (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Large cell lung cancer stage III

description: Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


name: Stage IIIA Lung Large Cell Carcinoma AJCC v7

description: Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


Large cell lung cancer stage II

description: Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


name: Stage IA Lung Large Cell Carcinoma AJCC v7

description: Stage IA includes: (T1a, N0, M0); (T1b, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Stage IB Lung Large Cell Carcinoma AJCC v7

description: Stage IB includes: T2a, N0, M0.  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Large cell lung cancer stage I

description: Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Stage IIB Lung Large Cell Carcinoma AJCC v7

description: Stage IIB includes: (T2b, N1, M0); (T3, N0, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


name: Stage 0 Lung Large Cell Carcinoma AJCC v6 and v7

description: Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Large cell lung cancer stage IV

description: Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b).  M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion.  M1b: Distant metastasis. (AJCC 7th ed.)


name: Stage IIIB Lung Large Cell Carcinoma AJCC v7

description: Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


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.


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.


name: Stage IV AIDS-Related Anal Canal Cancer AJCC v6 and v7

description: Stage IV includes: (Any T, Any N, M1).  M1: Distant metastasis. (AJCC 6th and 7th Eds.)


AIDS-Related Anal Canal Carcinoma

description: A carcinoma arising from the anal canal and occurring in HIV-positive patients.


name: Stage III AIDS-Related Anal Canal Cancer AJCC v6 and v7

description: Stage III includes: IIIA (T1, N1, M0); (T2, N1, M0); (T3, N1, M0); (T4, N0, M0); IIIB (T4, N1, M0); (Any T, N2, M0); (Any T, N3, M0).  T1: Tumor 2 cm or less in greatest dimension.  T2: tumor more than 2 cm but not more than 5 cm in greatest dimension.  T3: Tumor more than 5 cm in greatest dimension.  T4: Tumor of any size that invades adjacent organ(s).  N1: Metastasis in perirectal lymph node(s).  N0: No regional lymph node metastasis.  N2: Metastasis in unilateral internal iliac and/or inguinal lymph node(s).  N3: Metastasis in perirectal and inguinal lymph nodes and/or bilateral internal iliac and/or inguinal lymph nodes. M0: No distant metastasis. (AJCC 6th and 7th Eds.)


AIDS-related anal cancer recurrent

description: The reemergence of anal canal carcinoma in HIV-positive patients after a period of remission.


name: Stage 0 AIDS-Related Anal Canal Cancer AJCC v6 and v7

description: Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)