Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Thr354Ile Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.63792C>T (relative to Met1 in AF109907.1)
g.80404C>T (relative to nt1 in NG_007386.2)

Alias

Thr354Ile

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ACA to ATA

dbSNP ID

rs63751164

Details

Genomic

cDNA

Protein

Observed

c.1061C>T

Predicted

g.63792C>T

p.T354I

Region

EX10

CDS

HL-VI b

Notes

Observed in an early-onset AD patient carrying the PSEN1 Ala431Glu mutation in trans and mother with late-onset AD.

Phenotype

Alzheimer Disease (Pathogenic nature unclear)

Frequency

1 Family

Function

No Functional data available

Citations

Rogaeva EA, Neurology 57: 621-625, 2001
Lee P, Neurology 66: 1955-1956, 2006

Citation Details

Added: September 11, 2001
Last Modified: August 25, 2006

ID: 119



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