Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu392Pro Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.69089T>C (relative to Met1 in AF109907.1)
g.85701T>C (relative to nt1 in NG_007386.2)

Alias

Leu392Pro

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTG to CCG

dbSNP ID

rs63750218

Details

Genomic

cDNA

Protein

Observed

g.69089T>C

Predicted

c.1175T>C

p.L392P

Region

EX11

CDS

TM-VII

Phenotype

Alzheimer Disease / Epilepsy
Mean of Mean Onset Ages: 38.3y

Frequency

1 Family

Function

No Functional data available

Citations

Tedde A, Neurology 55: 1590-1591, 2000
Sorbi S, Neurobiology of Aging 23 (1S): S312, 2002

Citation Details

Added: December 14, 2000
Last Modified: July 31, 2002

ID: 101



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