Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Phe237Ile Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44728T>A (relative to Met1 in AF109907.1)
g.61334T>A (relative to nt1 in NG_007386.2)

Alias

Phe237Ile

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TTT to ATT

dbSNP ID

rs63750858

Details

Genomic

cDNA

Protein

Observed

g.44728T>A

Predicted

c.709T>A

p.F237I

Region

EX7

CDS

TM-V

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 31.0y

Frequency

1 Family

Function

No Functional data available

Citations

Sodeyama N, Journal of Neurology, Neurosurgery and Psychiatry 71: 556-557, 2001

Citation Details

Added: March 7, 2002

ID: 131



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