Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Ser178Pro Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.38829T>C (relative to Met1 in AF109907.1)
g.55434T>C (relative to nt1 in NG_007386.2)

Alias

Ser178Pro

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TCA to CCA

dbSNP ID

rs63750155

Details

Genomic

cDNA

Protein

Observed

c.532T>C

Predicted

g.38829T>C

p.S178P

Region

EX6

CDS

TM-III

Phenotype

Alzheimer Disease

Frequency

2 Families

Function

No Functional data available

Citations

Rogaeva EA, Neurology 57: 621-625, 2001

Citation Details

Added: September 11, 2001

ID: 112



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