PSEN1 Ile143Asn Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25631T>A (relative to Met1 in AF109907.1)
g.42185T>A (relative to nt1 in NG_007386.2)

Alias

Ile143Asn

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATT to AAT

dbSNP ID

rs63750004

Details

Genomic

cDNA

Protein

Observed

g.25631T>A

Predicted

c.428T>A

p.I143N

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease

Frequency

1 Family

Function

No Functional data available

Citations

Raux G, Journal of Medical Genetics 42: 793-795, 2005

Citation Details

Added: January 11, 2006

ID: 254