Alzheimer Disease & Frontotemporal Dementia Mutation Database

Home

AD&FTDMDB

Links

About

PSEN1 Gly209Glu Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44645G>A (relative to Met1 in AF109907.1)
g.61251G>A (relative to nt1 in NG_007386.2)

Alias

Gly209Glu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGA to GAA

dbSNP ID

rs63750053

Details

Genomic

cDNA

Protein

Observed

Predicted

g.44645G>A

c.626G>A

p.G209E

Region

EX7

CDS

TM-IV

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: 115



Note! When using AD&FTDMDB, please consult the How To Cite page for information on how to cite AD&FTDMDB in your publication.



Top |  Back |  AD&FTDMDB Home