PSEN1 Leu286Pro Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.50042T>C (relative to Met1 in AF109907.1)
g.66648T>C (relative to nt1 in NG_007386.2)

Alias

Leu286Pro

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTC to CCC

Details

Genomic

cDNA

Protein

Observed

g.50042T>C

Predicted

c.857T>C

p.L286P

Region

EX8

CDS

HL-VI (MA)

Phenotype

Alzheimer Disease / CAA
Mean of Mean Onset Ages: 39.6y
Mean of Mean Ages at Death: 51.4y

Frequency

1 Family

Function

No Functional data available

Citations

Sánchez-Valle R, European Journal of Neurology 14: 1409-1412, 2007

Citation Details

Added: December 14, 2007

ID: 400