Alzheimer Disease & Frontotemporal Dementia Mutation Database

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APP His677Arg Mutation Details

(Table Legend)

Gene

APP

Name

g.269518A>G (relative to Met1 in D87675.1)
g.278214A>G (relative to nt1 in NG_007376.1)

Alias

His677Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CAT to CGT

dbSNP ID

rs63749953

Details

Genomic

cDNA

Protein

Observed

g.269518A>G

Predicted

c.2030A>G

p.H677R

Region

EX16

CDS

N-Term

Notes

Not segregating with disease. Detected in 1 patient but not in 1 affected sibling.

Phenotype

No Neurodegenerative Phenotype (Not pathogenic)
Mean of Mean Onset Ages: 55.5y

Function

No Functional data available

Citations

Janssen JC, Neurology 60: 235-239, 2003

Citation Details

Added: January 7, 2005
Last Modified: February 14, 2005

ID: 235



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