Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu219Pro Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44675T>C (relative to Met1 in AF109907.1)
g.61281T>C (relative to nt1 in NG_007386.2)

Alias

Leu219Pro

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTT to CCT

dbSNP ID

rs63750761

Details

Genomic

cDNA

Protein

Observed

g.44675T>C

Predicted

c.656T>C

p.L219P

Region

EX7

CDS

HL-IV

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 50.0y

Frequency

1 Family

Function

No Functional data available

Citations

Smith MJ, Neuroreport 10: 503-507, 1999

Citation Details

Added: September 1, 1999

ID: 72



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