Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Ala231Thr Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44710G>A (relative to Met1 in AF109907.1)
g.61316G>A (relative to nt1 in NG_007386.2)

Alias

Ala231Thr

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCC to ACC

dbSNP ID

rs63749836

Details

Genomic

cDNA

Protein

Observed

g.44710G>A

c.691G>A

Predicted

p.A231T

Region

EX7

CDS

TM-V

Phenotype

Alzheimer Disease

Frequency

2 Families

Function

Summary table showing mean of (n) reports

 

42/Aβ

COS-1

1.7x ↑ (1)


Function Details

Citations

Campion D, Human Molecular Genetics 4: 2373-2377, 1995
Campion D, American Journal of Human Genetics 65: 664-670, 1999
Rogaeva EA, Neurology 57: 621-625, 2001

Citation Details

Added: December 24, 1998
Last Modified: April 7, 2009

ID: 25



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