Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Phe105Ile Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.22998T>A (relative to Met1 in AF109907.1)
g.39552T>A (relative to nt1 in NG_007386.2)

Alias

Phe105Ile

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TTT to ATT

dbSNP ID

rs63750325

Details

Genomic

cDNA

Protein

Observed

g.22998T>A

Predicted

c.313T>A

p.F105I

Region

EX4

CDS

HL-I

Phenotype

Alzheimer Disease

Frequency

1 Family

Function

No Functional data available

Citations

Raux G, Journal of Medical Genetics 42: 793-795, 2005

Citation Details

Added: January 11, 2006

ID: 253



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