PSEN1 Ala426Pro Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.71080G>C (relative to Met1 in AF109907.1)
g.87691G>C (relative to nt1 in NG_007386.2)

Alias

Ala426Pro

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCC to CCC

dbSNP ID

rs63751223

Details

Genomic

cDNA

Protein

Observed

g.71080G>C

c.1276G>C

Predicted

p.A426P

Region

EX12

CDS

TM-VIII

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 46.0y

Frequency

1 Family

Function

No Functional data available

Citations

Poorkaj P, Human Mutation 11: 216-221, 1998

Citation Details

Added: January 4, 1999
Last Modified: January 22, 2000

ID: 48