Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Ser365Tyr Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.63825C>A (relative to Met1 in AF109907.1)
g.80437C>A (relative to nt1 in NG_007386.2)

Alias

Ser365Tyr

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TCC to TAC

dbSNP ID

rs63750941

Details

Genomic

cDNA

Protein

Observed

c.1094C>A

Predicted

g.63825C>A

p.S365Y

Region

EX10

CDS

HL-VI b

Notes

Observed in 1 patient who also carries the PSEN1 Met146Val mutation

Phenotype

Alzheimer Disease (Pathogenic nature unclear)

Frequency

1 Family

Function

No Functional data available

Citations

Rogaeva EA, Neurology 57: 621-625, 2001

Citation Details

Added: September 11, 2001
Last Modified: October 27, 2010

ID: 121



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