Alzheimer Disease & Frontotemporal Dementia Mutation Database

Home

AD&FTDMDB

Links

About

APP Thr714Ala, Iranian APP Mutation Details

(Table Legend)

Gene

APP

Name

g.275332A>G (relative to Met1 in D87675.1)
g.284028A>G (relative to nt1 in NG_007376.1)

Alias

Thr714Ala, Iranian APP

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ACA to GCA

dbSNP ID

rs63750643

Details

Genomic

cDNA

Protein

Observed

g.275332A>G

Predicted

c.2140A>G

p.T714A

Region

EX17

CDS

TM-I

Phenotype

Alzheimer Disease / Epilepsy
Mean of Mean Onset Ages: 50.2y
Mean of Mean Ages at Death: 67.0y

Frequency

3 Families

Function

No Functional data available

Citations

Pasalar P, Neurology 58: 1574-1575, 2002
Zekanowski C, Experimental Neurology 184: 991-996, 2003
Lindquist SG, Journal of the Neurological Sciences 268: 124-130, 2008
Lindquist S, Clinical Genetics 76: 205-209, 2009

Citation Details

Added: June 6, 2002
Last Modified: August 26, 2009

ID: 133



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