Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu166del Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.38793_38795delCTT (relative to Met1 in AF109907.1)
g.55398_55400delCCT (relative to nt1 in NG_007386.2)

Alias

Leu166del

Description

Trinucleotide deletion predicted to result in deletion of 1 amino acid

Codon Change

From CTT to ---

dbSNP ID

rs63751458

Details

Genomic

cDNA

Protein

Observed

g.38793_38795delCTT

Predicted

c.496_498delCTT

p.L166del

Region

EX6

CDS

TM-III

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 38.0y
Mean of Mean Ages at Death: 46.0y

Frequency

1 Family

Function

No Functional data available

Citations

Knight WD, European Journal of Neurology 14: 829-831, 2007

Citation Details

Added: August 2, 2007

ID: 368



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