Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN2 Tyr231Cys Mutation Details

(Table Legend)

Gene

PSEN2

Name

g.7048A>G (relative to Met1 in U50871.1)
g.23383A>G (relative to nt1 in NG_007381.1)

Alias

Tyr231Cys

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TAC to TGC

Details

Genomic

cDNA

Protein

Observed

g.7048A>G

Predicted

c.692A>G

p.Y231C

Region

EX7

CDS

TM-V

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 58.5y
Mean of Mean Ages at Death: 83.0y

Frequency

1 Family

Function

No Functional data available

Citations

Marcon G, Alzheimer's & Dementia 4 Supp 2: T590, 2008
Marcon G, Journal of Alzheimer's Disease 16: 509-511, 2009

Citation Details

Added: October 8, 2008
Last Modified: May 6, 2009

ID: 458



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