Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu113Pro Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.23023T>C (relative to Met1 in AF109907.1)
g.39577T>C (relative to nt1 in NG_007386.2)

Alias

Leu113Pro

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTA to CCA

dbSNP ID

rs63751399

Details

Genomic

cDNA

Protein

Observed

c.338T>C

Predicted

g.23023T>C

p.L113P

Region

EX4

CDS

HL-I

Phenotype

Alzheimer Disease / Frontotemporal Dementia
Mean of Mean Onset Ages: 42.4y
Mean of Mean Ages at Death: 50.0y

Frequency

1 Family

Function

No Functional data available

Citations

Raux G, Neurology 55: 1577-1579, 2000

Citation Details

Added: December 14, 2000

ID: 102



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