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APP Glu693Lys; Italian APP Mutation Details

(Table Legend)

Gene

APP

Name

g.275269G>A (relative to Met1 in D87675.1)
g.283965G>A (relative to nt1 in NG_007376.1)

Alias

Glu693Lys; Italian APP

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAA to AAA

dbSNP ID

rs63750579

Details

Genomic

cDNA

Protein

Observed

g.275269G>A

Predicted

c.2020G>A

p.E693K

Region

EX17

CDS

N-Term

Phenotype

CAA

Frequency

3 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

HEK293

1.1x ↓ (1)

1.7x ↓ (1)

1.5x ↓ (1)


Function Details

Citations

Tagliavini F, Alzheimer's Reports 2 Supp 1: S28, 1999

Citation Details

Added: September 22, 2005

ID: 246



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