Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu166His Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.38794T>A (relative to Met1 in AF109907.1)
g.55399T>A (relative to nt1 in NG_007386.2)

Alias

Leu166His

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTT to CAT

dbSNP ID

rs63750265

Details

Genomic

cDNA

Protein

Observed

g.38794T>A

Predicted

c.497T>A

p.L166H

Region

EX6

CDS

TM-III

Notes

de novo or non-paternity?

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 30.0y

Frequency

1 Family

Function

No Functional data available

Citations

Pantieri R, Neurological Sciences 26: 349-350, 2005

Citation Details

Added: January 10, 2006

ID: 248



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