PSEN1 Met233Ile Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44718G>C (relative to Met1 in AF109907.1)
g.61324G>C (relative to nt1 in NG_007386.2)

Alias

Met233Ile

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to ATC

dbSNP ID

rs63751479

Details

Genomic

cDNA

Protein

Observed

c.699G>C

Predicted

g.44718G>C

p.M233I

Region

EX7

CDS

TM-V

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 28.0y
Mean of Mean Ages at Death: 36.0y

Frequency

1 Family

Function

No Functional data available

Citations

Portet F, Neurology 61: 1136-1137, 2003

Citation Details

Added: January 17, 2007

ID: 321