Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Pro267Leu Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.49985C>T (relative to Met1 in AF109907.1)
g.66591C>T (relative to nt1 in NG_007386.2)

Alias

Pro267Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CCA to CTA

dbSNP ID

rs63750779

Details

Genomic

cDNA

Protein

Observed

g.49985C>T

Predicted

c.800C>T

p.P267L

Region

EX8

CDS

HL-VI a

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 56.0y

Frequency

1 Family

Function

No Functional data available

Citations

Kowalska A, Journal of Applied Genetics 44: 231-234, 2003
Kowalska A, Folia Neuropathologica 42: 9-14, 2004
Kowalska A, Acta Biochimica Polonica 51: 245-252, 2004

Citation Details

Added: August 26, 2003
Last Modified: October 7, 2004

ID: 168



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