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rs63750231

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 8 Early-onset Alzheimer's disease (in some cases)
Make rs63750231(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position73198100
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750231
ebirs63750231
HLIrs63750231
Exacrs63750231
Varsomers63750231
Maprs63750231
PheGenIrs63750231
hapmaprs63750231
1000 genomesrs63750231
hgdprs63750231
ensemblrs63750231
gopubmedrs63750231
geneviewrs63750231
scholarrs63750231
googlers63750231
pharmgkbrs63750231
gwascentralrs63750231
openSNPrs63750231
23andMers63750231
23andMe allrs63750231
SNP Nexus

SNPshotrs63750231
SNPdbers63750231
MSV3drs63750231
GWAS Ctlgrs63750231
Max Magnitude8

rs63750231 consists of at least two known mutations, and so this SNP is also known as both c.839A>C, p.Glu280Ala and E280A, as well as c.839A>G, p.Glu280Gly and E280G. Both are very rare mutations in the PSEN1 gene on chromosome 14.

The rs63750231(C) allele is reported to be a dominant mutation leading to early-onset Alzheimer's disease. This was originally reported in 1995 ([PMID 7550356]), with subsequent reports based on Colombian populations, where the mutation is somewhat more frequent than in other populations. Additional information can be found in OMIM 104311.0009.

The rs63750231(G) allele is also reported to a dominant mutation leading to early-onset Alzheimer's disease. More information about this mutation can be found in OMIM [104311.0010.

This SNP is referred to as i5047571 by 23andMe, and it is reported to assay the A/G form of this SNP (and not the A/C).

Washington Post article on the history, traces the presence of this to a 17th century conquistador.

OMIM104311
Desc
Variant0009
Relatedalso
ClinVar
Risk rs63750231(C,G;C,G)
Alt rs63750231(C,G;C,G)
Reference rs63750231(A;A)
Significance Pathogenic
Disease Alzheimer disease Alzheimer disease not provided
Variation info
Gene PSEN1
CLNDBN Alzheimer disease, type 3 Alzheimer disease, familial, with spastic paraparesis and unusual plaques not provided
Reversed 0
HGVS NC_000014.8:g.73664808A>C; NC_000014.8:g.73664808A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019759.28, RCV000019760.26, RCV000019761.27, RCV000084381.1,


[PMID 7550356] The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Alzheimer's Disease Collaborative Group.


[PMID 8837617] The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.


[PMID 9052708] Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.


[PMID 11402113] Presenilin-1-associated abnormalities in regional cerebral perfusion.


[PMID 12891668] Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.