PSEN1 Met139Ile Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25620G>C (relative to Met1 in AF109907.1)
g.42174G>C (relative to nt1 in NG_007386.2)

Alias

Met139Ile

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to ATC

Details

Genomic

cDNA

Protein

Observed

g.25620G>A

Predicted

c.417G>C

p.M139I

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 36.0y
Mean of Mean Ages at Death: 45.0y

Frequency

1 Family

Function

No Functional data available

Citations

Kim HJ, Neurological Sciences 31: 781-783, 2010

Citation Details

Added: May 2, 2010

ID: 566