Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Gly206Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44636G>T (relative to Met1 in AF109907.1)
g.61242G>T (relative to nt1 in NG_007386.2)

Alias

Gly206Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGT to GTT

dbSNP ID

rs63750082

Details

Genomic

cDNA

Protein

Observed

g.44636G>T

c.617G>T

Predicted

p.G206V

Region

EX7

CDS

TM-IV

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 33.0y
Mean of Mean Ages at Death: 40.5y

Frequency

1 Family

Function

No Functional data available

Citations

Goldman JS, International Journal of Geriatric Psychiatry 17: 649-651, 2002

Citation Details

Added: April 8, 2003

ID: 166



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