Alzheimer Disease & Frontotemporal Dementia Mutation Database

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APP Ala673Thr Mutation Details

(Table Legend)

Gene

APP

Name

g.269505G>A (relative to Met1 in D87675.1)
g.278201G>A (relative to nt1 in NG_007376.1)

Alias

Ala673Thr

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCA to ACA

dbSNP ID

rs63750847

Details

Genomic

cDNA

Protein

Observed

g.269505G>A

Predicted

c.2017G>A

p.A673T

Region

EX16

CDS

N-Term

Notes

Detected in 1 patient with 2 ischemic strokes and myocardial infarction. No family history; no amyloid deposition.

Phenotype

No Neurodegenerative Phenotype (Not pathogenic)

Function

No Functional data available

Citations

Peacock ML, Neurology 43: 1254-1256, 1993

Citation Details

Added: March 27, 2003

ID: 160



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