Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Trp165Cys Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.38792G>C (relative to Met1 in AF109907.1)
g.55397G>C (relative to nt1 in NG_007386.2)

Alias

Trp165Cys

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TGG to TGC

dbSNP ID

rs63751484

Details

Genomic

cDNA

Protein

Observed

g.38792G>C

c.495G>C

Predicted

p.W165C

Region

EX6

CDS

TM-III

Phenotype

Alzheimer Disease

Frequency

1 Family

Function

No Functional data available

Citations

Campion D, American Journal of Human Genetics 65: 664-670, 1999

Citation Details

Added: March 16, 2000

ID: 85



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