Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu420Arg Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.71063T>G (relative to Met1 in AF109907.1)
g.87674T>G (relative to nt1 in NG_007386.2)

Alias

Leu420Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTT to CGT

dbSNP ID

rs63750802

Details

Genomic

cDNA

Protein

Observed

g.71063T>G

Predicted

c.1259T>C

p.L420R

Region

EX12

CDS

TM-VIII

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 38.0y
Mean of Mean Ages at Death: 48.0y

Frequency

1 Family

Function

No Functional data available

Citations

Shrimpton AE, Neuropathology 27: 228-232, 2007

Citation Details

Added: August 2, 2007

ID: 367



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