PSEN1 Glu318Gly Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.58389A>G (relative to Met1 in AF109907.1)
g.75001A>G (relative to nt1 in NG_007386.2)

Alias

Glu318Gly

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAA to GGA

dbSNP ID

rs17125721

Details

Genomic

cDNA

Protein

Observed

g.58389A>G

Predicted

c.953A>G

p.E318G

Region

EX9

CDS

HL-VI b

Notes

Observed at equal frequencies in patients and unaffected controls.

Phenotype

No Neurodegenerative Phenotype (Not pathogenic)

Function

No Functional data available

Citations

Sandbrink R, Annals of Neurology 40: 265-266, 1996
Cruts M, Human Molecular Genetics 7: 43-51, 1998
Aldudo J, Annals of Neurology 44: 985-986, 1998
Mattila KM, Annals of Neurology 44: 965-967, 1998
Dermaut B, American Journal of Human Genetics 64: 290-292, 1999
Helisalmi S, Neuroscience Letters 278: 65-68, 2000
Goldman JS, Archives of Neurology 62: 1624-1627, 2005
Raux G, Journal of Medical Genetics 42: 793-795, 2005
Batelli S, Alzheimer Disease and Associated Disorders 22: 184-187, 2008
Bernardi L, Journal of Neurology 255: 604-606, 2008
Gallo M, Alzheimer's & Dementia 4 Supp 2: T585, 2008
Lindquist S, Clinical Genetics 76: 205-209, 2009

Citation Details

Added: April 1, 2003
Last Modified: August 26, 2009

ID: 164