PSEN1 Met146Ile Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25641G>T (relative to Met1 in AF109907.1)
g.42195G>T (relative to nt1 in NG_007386.2)

Alias

Met146Ile

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to ATT

dbSNP ID

rs63750391

Details

Genomic

cDNA

Protein

Observed

c.438G>T

Predicted

g.25641G>T

p.M146I

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease

Frequency

1 Family

Function

No Functional data available

Citations

Rogaeva EA, Neurology 57: 621-625, 2001

Citation Details

Added: September 11, 2001

ID: 108