PSEN1 Gly206Asp Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44636G>A (relative to Met1 in AF109907.1)
g.61242G>A (relative to nt1 in NG_007386.2)

Alias

Gly206Asp

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGT to GAT

dbSNP ID

rs63750082

Details

Genomic

cDNA

Protein

Observed

g.44636G>A

Predicted

c.617G>A

p.G206D

Region

EX7

CDS

TM-IV

Phenotype

Alzheimer Disease

Frequency

1 Family

Function

No Functional data available

Citations

Raux G, Journal of Medical Genetics 42: 793-795, 2005

Citation Details

Added: January 11, 2006

ID: 255