Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Pro284Leu Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.50036C>T (relative to Met1 in AF109907.1)
g.66642C>T (relative to nt1 in NG_007386.2)

Alias

Pro284Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CCA to CTA

dbSNP ID

rs63750863

Details

Genomic

cDNA

Protein

Observed

g.50036C>T

Predicted

c.851C>T

p.P284L

Region

EX8

CDS

HL-VI (MA)

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 32.0y
Mean of Mean Ages at Death: 54.0y

Frequency

1 Family

Function

No Functional data available

Citations

Tabira T, Journal of Neuroscience Research 70: 367-372, 2002

Citation Details

Added: April 1, 2003

ID: 165



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