PSEN1 Ile213Thr Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44657T>C (relative to Met1 in AF109907.1)
g.61263T>C (relative to nt1 in NG_007386.2)

Alias

Ile213Thr

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATT to ACT

dbSNP ID

rs63751309

Details

Genomic

cDNA

Protein

Observed

g.44657T>C

c.638T>C

Predicted

p.I213T

Region

EX7

CDS

TM-IV

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 45.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

Function Details

Citations

Kamino K, Neuroscience Letters 208: 195-198, 1996

Citation Details

Added: December 24, 1998
Last Modified: April 7, 2009

ID: 24