Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Ala136Gly Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25610C>G (relative to Met1 in AF109907.1)
g.42164C>G (relative to nt1 in NG_007386.2)

Alias

Ala136Gly

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCT to GGT

dbSNP ID

rs41345849

Details

Genomic

cDNA

Protein

Observed

g.25610C>G

Predicted

c.407C>G

p.A136G

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease

Frequency

1 Family

Function

No Functional data available

Citations

Fang BY, Zhonghua Yi Xue Za Zhi 87: 336-340, 2007

Citation Details

Added: December 9, 2008
Last Modified: May 12, 2009

ID: 463



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