PSEN1 Met139Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25618A>G (relative to Met1 in AF109907.1)
g.42172A>G (relative to nt1 in NG_007386.2)

Alias

Met139Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to GTG

dbSNP ID

rs63751037

Details

Genomic

cDNA

Protein

Observed

g.25618A>G

c.415A>G

Predicted

p.M139V

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease / Frontotemporal Dementia
Mean of Mean Onset Ages: 40.7y
Mean of Mean Ages at Death: 48.6y

Frequency

9 Families

Function

Summary table showing mean of (n) reports

Function Details

Citations

Clark RF, Nature Genetics 11: 219-222, 1995
Boteva K, The Lancet 347: 130-131, 1996
Hutton M, Neuroreport 7: 801-805, 1996
Sandbrink R, Annals of Neurology 40: 265-266, 1996
Fox NC, Brain 120: 491-501, 1997
Hüll M, European Archives of Psychiatry and Clinical Neuroscience 248: 123-129, 1998
Palmer MS, Human Mutation 13: 256, 1999
Finckh U, American Journal of human Genetics 66: 110-117, 2000
Larner AJ, European Journal of Neurology 10: 319-323, 2003
Rippon GA, Archives of Neurology 60: 884-888, 2003
Zekanowski C, Experimental Neurology 184: 991-996, 2003

Citation Details

Added: December 23, 1998
Last Modified: April 7, 2009

ID: 15