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Entry version 227 (05 Jun 2019)
Sequence version 1 (01 Oct 1996)
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Protein

Presenilin-1

Gene

PSEN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:15274632, PubMed:10545183, PubMed:10593990, PubMed:10206644, PubMed:10899933, PubMed:10811883, PubMed:12679784, PubMed:12740439, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874, PubMed:28269784, PubMed:20460383). Requires the presence of the other members of the gamma-secretase complex for protease activity (PubMed:15274632, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (PubMed:9738936, PubMed:10593990, PubMed:10899933, PubMed:10811883). Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11953314). Under conditions of apoptosis or calcium influx, cleaves CDH1 (PubMed:11953314). This promotes the disassembly of the complexes between CDH1 and CTNND1, JUP and CTNNB1, increases the pool of cytoplasmic CTNNB1, and thereby negatively regulates Wnt signaling (PubMed:9738936, PubMed:11953314). Required for normal embryonic brain and skeleton development, and for normal angiogenesis (By similarity). Mediates the proteolytic cleavage of EphB2/CTF1 into EphB2/CTF2 (PubMed:17428795, PubMed:28269784). The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is therefore involved in calcium homeostasis (PubMed:25394380, PubMed:16959576). Involved in the regulation of neurite outgrowth (PubMed:15004326, PubMed:20460383). Is a regulator of presynaptic facilitation, spike transmission and synaptic vesicles replenishment in a process that depends on gamma-secretase activity. It acts through the control of SYT7 presynaptic expression (By similarity).By similarity22 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei2573 Publications1
Active sitei3855 Publications1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease
Biological processApoptosis, Cell adhesion, Notch signaling pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-193692 Regulated proteolysis of p75NTR
R-HSA-205043 NRIF signals cell death from the nucleus
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-6798695 Neutrophil degranulation
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9013700 NOTCH4 Activation and Transmission of Signal to the Nucleus
R-HSA-9017802 Noncanonical activation of NOTCH3

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P49768

SIGNOR Signaling Network Open Resource

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SIGNORi
P49768

Protein family/group databases

MEROPS protease database

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MEROPSi
A22.001

Transport Classification Database

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TCDBi
1.A.54.1.1 the presenilin er ca(2+) leak channel (presenilin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Presenilin-1 (EC:3.4.23.-6 Publications)
Short name:
PS-1
Alternative name(s):
Protein S182
Cleaved into the following 3 chains:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PSEN1
Synonyms:AD3, PS1, PSNL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:9508 PSEN1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
104311 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P49768

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 82Cytoplasmic1 PublicationAdd BLAST82
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei83 – 103Helical1 PublicationAdd BLAST21
Topological domaini104 – 132Lumenal1 PublicationAdd BLAST29
Transmembranei133 – 153Helical1 PublicationAdd BLAST21
Topological domaini154 – 166Cytoplasmic1 PublicationAdd BLAST13
Transmembranei167 – 189Helical1 PublicationAdd BLAST23
Topological domaini190 – 194Lumenal1 Publication5
Transmembranei195 – 216Helical1 PublicationAdd BLAST22
Topological domaini217 – 220Cytoplasmic1 Publication4
Transmembranei221 – 241Helical1 PublicationAdd BLAST21
Topological domaini242 – 248Lumenal1 Publication7
Transmembranei249 – 272Helical1 PublicationAdd BLAST24
Topological domaini273 – 380Cytoplasmic1 PublicationAdd BLAST108
Transmembranei381 – 401Helical1 PublicationAdd BLAST21
Topological domaini402 – 407Lumenal1 Publication6
Transmembranei408 – 428Helical1 PublicationAdd BLAST21
Topological domaini429 – 432Cytoplasmic1 Publication4
Transmembranei433 – 453Helical1 PublicationAdd BLAST21
Topological domaini454 – 467Lumenal1 PublicationAdd BLAST14

Keywords - Cellular componenti

Cell membrane, Cell projection, Endoplasmic reticulum, Endosome, Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Alzheimer disease 3 (AD3)82 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07526035R → Q in AD3; unknown pathological significance; decreased protease activity with APP. 2 PublicationsCorresponds to variant dbSNP:rs63750592EnsemblClinVar.1
Natural variantiVAR_00641379A → V in AD3; also found in late-onset Alzheimer disease; impaired protease activity with APP; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio; no effect on interaction with GFAP. 7 PublicationsCorresponds to variant dbSNP:rs63749824EnsemblClinVar.1
Natural variantiVAR_00641482V → L in AD3; decreased protease activity with APP; no effect on interaction with GFAP. 4 PublicationsCorresponds to variant dbSNP:rs63749967EnsemblClinVar.1
Natural variantiVAR_07526183I → T in AD3. 1 Publication1
Natural variantiVAR_08122885L → P in AD3; the patient also manifest spastic paraparesis and apraxia; loss of protease activity with APP in vitro; altered amyloid-beta production in cells transfected with the mutant and increased amyloid-beta 42/amyloid-beta 40 ratio. 2 PublicationsCorresponds to variant dbSNP:rs63750599EnsemblClinVar.1
Natural variantiVAR_08122989V → L in AD3; decreased protease activity with APP; increased amyloid-beta 42/amyloid-beta 40 ratio. 1 PublicationCorresponds to variant dbSNP:rs63750815EnsemblClinVar.1
Natural variantiVAR_01621492C → S in AD3; loss of protease activity with APP. 2 PublicationsCorresponds to variant dbSNP:rs63751141EnsemblClinVar.1
Natural variantiVAR_08123094V → M in AD3; unknown pathological significance; reduced protease activity with APP; no relevant change in amyloid-beta 42/amyloid-beta 40 ratio. 1 PublicationCorresponds to variant dbSNP:rs63750831EnsemblClinVar.1
Natural variantiVAR_00641596V → F in AD3; loss of protease activity with APP. 2 PublicationsCorresponds to variant dbSNP:rs63750601EnsemblClinVar.1
Natural variantiVAR_08123197V → L in AD3; unknown pathological significance; slightly reduced protease activity with APP. 2 PublicationsCorresponds to variant dbSNP:rs63750852EnsemblClinVar.1
Natural variantiVAR_009208105F → L in AD3. 1 PublicationCorresponds to variant dbSNP:rs63750321EnsemblClinVar.1
Natural variantiVAR_006416115Y → C in AD3. 3 PublicationsCorresponds to variant dbSNP:rs63750450EnsemblClinVar.1
Natural variantiVAR_006417115Y → H in AD3; impaired protease activity with APP and increased amyloid-beta 42/amyloid-beta 40 ratio. 3 Publications1
Natural variantiVAR_081232116T → I in AD3. 1 PublicationCorresponds to variant dbSNP:rs63750730EnsemblClinVar.1
Natural variantiVAR_010120116T → N in AD3; unusual amyloid cotton wool plaques detected in one patient's brain; severe decrease of protease activity with APP; results in increased amyloid-beta 42/amyloid-beta 40 ratio. 4 Publications1
Natural variantiVAR_009209117P → L in AD3; impaired ability to cleave Ephb2/CTF1; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio; impaired regulation of neurite outgrowth. 3 PublicationsCorresponds to variant dbSNP:rs63749805EnsemblClinVar.1
Natural variantiVAR_081233117P → S in AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio; impaired regulation of neurite outgrowth. 1 PublicationCorresponds to variant dbSNP:rs63750550EnsemblClinVar.1
Natural variantiVAR_006418120E → D in AD3; impaired protease activity with APP and increased amyloid-beta 42/amyloid-beta 40 ratio. 3 PublicationsCorresponds to variant dbSNP:rs63751272EnsemblClinVar.1
Natural variantiVAR_006419120E → K in AD3; impaired protease activity with APP and increased amyloid-beta 42/amyloid-beta 40 ratio. 1 PublicationCorresponds to variant dbSNP:rs63750800EnsemblClinVar.1
Natural variantiVAR_070023134L → R in AD3; uncertain pathological significance; loss of protease activity with APP. 2 Publications1
Natural variantiVAR_010121135N → D in AD3; impaired protease activity with APP and increased amyloid-beta 42/amyloid-beta 40 ratio. 2 PublicationsCorresponds to variant dbSNP:rs63750353EnsemblClinVar.1
Natural variantiVAR_006420139M → I in AD3. Corresponds to variant dbSNP:rs63750522EnsemblClinVar.1
Natural variantiVAR_010122139M → K in AD3. 1 Publication1
Natural variantiVAR_006421139M → T in AD3. 2 PublicationsCorresponds to variant dbSNP:rs63751106EnsemblClinVar.1
Natural variantiVAR_006422139M → V in AD3; increased amyloid-beta 42/amyloid-beta 40 ratio. 3 PublicationsCorresponds to variant dbSNP:rs63751037EnsemblClinVar.1
Natural variantiVAR_081234142V → F in AD3; unknown pathological significance. 1 Publication1
Natural variantiVAR_006423143I → F in AD3. 1 PublicationCorresponds to variant dbSNP:rs63750322EnsemblClinVar.1
Natural variantiVAR_006424143I → T in AD3; impaired protease activity with APP; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. 6 PublicationsCorresponds to variant dbSNP:rs63750004EnsemblClinVar.1
Natural variantiVAR_006425146M → I in AD3. 2 PublicationsCorresponds to variant dbSNP:rs63750391EnsemblClinVar.1
Natural variantiVAR_006426146M → L in AD3; disease phenotype shows high clinical variability; founder mutation originating from Southern Italy and distributed worldwide; alters the conformation of the active site; slightly increased protease activity with APP; decreased activity for Notch1 cleavage; no loss of its ability to cleave Ephb2/CTF1. 7 PublicationsCorresponds to variant dbSNP:rs63750306EnsemblClinVar.1
Natural variantiVAR_006427146M → V in AD3; loss of function as calcium-leak channel; results in calcium overload in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs63750306EnsemblClinVar.1
Natural variantiVAR_010123147T → I in AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. 2 PublicationsCorresponds to variant dbSNP:rs63750907EnsemblClinVar.1
Natural variantiVAR_081235153L → V in AD3; abolishes protease activity with APP resulting in decreased amyloid-beta 42 and amyloid-beta 40 production. 3 PublicationsCorresponds to variant dbSNP:rs63751441EnsemblClinVar.1
Natural variantiVAR_081236154Y → C in AD3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63751292EnsemblClinVar.1
Natural variantiVAR_081237154Y → N in AD3; disease phenotype includes spastic paraparesis; abolishes protease activity with APP resulting in decreased amyloid-beta 42 and amyloid-beta 40 production. 2 PublicationsCorresponds to variant dbSNP:rs63750588EnsemblClinVar.1
Natural variantiVAR_075262156Y → FTY in AD3; unknown pathological significance. 1 Publication1
Natural variantiVAR_081238159Y → F in AD3; unknown pathological significance. 1 Publication1
Natural variantiVAR_006428163H → R in AD3; abolishes protease activity with APP; decreased activity for Notch cleavage. 9 PublicationsCorresponds to variant dbSNP:rs63750590EnsemblClinVar.1
Natural variantiVAR_006429163H → Y in AD3; slightly increased protease activity with APP and slightly increased amyloid-beta 42 production. 2 PublicationsCorresponds to variant dbSNP:rs63749885EnsemblClinVar.1
Natural variantiVAR_010124165W → C in AD3. 1 PublicationCorresponds to variant dbSNP:rs63751484EnsemblClinVar.1
Natural variantiVAR_016216166L → P in AD3; onset in adolescence; severe decrease of protease activity with APP; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio; results in reduced Notch proteolysis. 4 PublicationsCorresponds to variant dbSNP:rs63750265EnsemblClinVar.1
Natural variantiVAR_081239168Missing in AD3; unknown pathological significance; abolishes protease activity with APP resulting in decreased amyloid-beta 42 and amyloid-beta 40 production. 1 Publication1
Natural variantiVAR_006430169S → L in AD3. 1 PublicationCorresponds to variant dbSNP:rs63751210EnsemblClinVar.1
Natural variantiVAR_006431169S → P in AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. 2 PublicationsCorresponds to variant dbSNP:rs63750418EnsemblClinVar.1
Natural variantiVAR_081240170S → F in AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. 4 PublicationsCorresponds to variant dbSNP:rs63750577EnsemblClinVar.1
Natural variantiVAR_006432171L → P in AD3; abolishes protease activity with APP. 3 PublicationsCorresponds to variant dbSNP:rs63750963EnsemblClinVar.1
Natural variantiVAR_010125173L → W in AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. 2 PublicationsCorresponds to variant dbSNP:rs63750299EnsemblClinVar.1
Natural variantiVAR_016217174L → M in AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. 2 PublicationsCorresponds to variant dbSNP:rs63751144EnsemblClinVar.1
Natural variantiVAR_075263177F → L in AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. 2 PublicationsCorresponds to variant dbSNP:rs63749911EnsemblClinVar.1
Natural variantiVAR_075264177F → S in AD3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63749806EnsemblClinVar.1
Natural variantiVAR_075265178S → P in AD3; unknown pathological significance; abolishes protease activity with APP. 2 PublicationsCorresponds to variant dbSNP:rs63750155EnsemblClinVar.1
Natural variantiVAR_081241183G → V in PIDB and AD3; neuropathologic examination of brain sections from the patient shows the presence of Pick bodies and absence of beta-amyloid plaques; unknown pathological significance; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. 2 Publications1
Natural variantiVAR_081242184E → D in AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. 2 PublicationsCorresponds to variant dbSNP:rs63750311EnsemblClinVar.1
Natural variantiVAR_016218206G → A in AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. 4 PublicationsCorresponds to variant dbSNP:rs63750082EnsemblClinVar.1
Natural variantiVAR_081243206G → D in AD3; affects APP processing resulting in increased amyloid-beta 42/amyloid-beta 40 ratio; does not affect NOTCH processing; does not affect endoproteolysis; reduced interaction with PEN2; results in decreased protein levels in the endoplasmic reticulum but increased levels in early endosome; reduced ability to maintain ER calcium homeostasis. 3 Publications1
Natural variantiVAR_075266206G → S in AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. 2 PublicationsCorresponds to variant dbSNP:rs63750569EnsemblClinVar.1
Natural variantiVAR_075267209G → E in AD3; unknown pathological significance. 1 Publication1
Natural variantiVAR_009210209G → R in AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. 2 PublicationsCorresponds to variant dbSNP:rs63749880Ensembl