Alzheimer Disease & Frontotemporal Dementia Mutation Database

Home

AD&FTDMDB

Links

About

PSEN1 Met139Lys Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25619T>A (relative to Met1 in AF109907.1)
g.42173T>A (relative to nt1 in NG_007386.2)

Alias

Met139Lys

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to AAG

dbSNP ID

rs63751106

Details

Genomic

cDNA

Protein

Observed

g.25619T>A

Predicted

c.416T>A

p.M139K

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 37.0y
Mean of Mean Ages at Death: 47.0y

Frequency

1 Family

Function

No Functional data available

Citations

Dumanchin C, Journal of Medical Genetics 35: 672-673, 1998

Citation Details

Added: February 4, 2000

ID: 82



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