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APP APPKM670/671NL; Swedish APP Mutation Details

(Table Legend)

Gene

APP

Name

g.[269498G>T;269499A>C] (relative to Met1 in D87675.1)
g.[278194G>T;278195A>C] (relative to nt1 in NG_007376.1)

Alias

APPKM670/671NL; Swedish APP

Description

Double point mutation in coding region causing 2 adjacent amino acid changes

Codon Change

From AAG.ATG to AAT.CTG

dbSNP ID

rs63751263;rs63750445

Details

Genomic

cDNA

Protein

Observed

g.[269498G>T;269499A>C]

c.[2010G>T;2011A>C]

Predicted

p.[K670N;M671L]

Region

EX16

CDS

N-Term

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 55.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

HEK293

5.9x ↑ (2)

5.2x ↑ (2)

= (2)

Plasma

3.0x ↑ (1)

2.0x ↑ (1)

 


Function Details

Citations

Mullan M, Nature Genetics 1: 345-347, 1992

Citation Details

Added: January 5, 1999
Last Modified: April 11, 2006

ID: 55



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