Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Arg269Gly Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.49990C>G (relative to Met1 in AF109907.1)
g.66596C>G (relative to nt1 in NG_007386.2)

Alias

Arg269Gly

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CGT to GGT

dbSNP ID

rs63751019

Details

Genomic

cDNA

Protein

Observed

g.49990C>G

Predicted

c.805C>G

p.R269G

Region

EX8

CDS

HL-VI a

Phenotype

Alzheimer Disease / Myoclonus
Mean of Mean Onset Ages: 49.0y

Frequency

2 Families

Function

No Functional data available

Citations

Perez-Tur J, Neurodegeneration 5: 207-212, 1996
Doran M, European Archives of Psychiatry and Clinical Neuroscience 254: 187-189, 2004

Citation Details

Added: December 24, 1998
Last Modified: April 21, 2005

ID: 36



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