GRN Arg19Trp Mutation Details

(Table Legend)

Gene

GRN

Name

g.55C>T (relative to Met1 in Reverse Complement of AC003043.1)
g.9097C>T (relative to nt1 in NG_007886.1)

Alias

Arg19Trp

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CGG to TGG

dbSNP ID

rs63750723

Details

Genomic

cDNA

Protein

Observed

g.55C>T

Predicted

c.55C>T

p.R19W

Region

EX2

CDS

ParaGran

Notes

Observed in control individuals

Phenotype

? (Not pathogenic)

Function

No Functional data available

Citations

Gass J, Human Molecular Genetics 15: 2988-3001, 2006
Schymick J, Journal of Neurology, Neurosurgery and Psychiatry 78: 754-756, 2007
Guerreiro RJ, Human Mutation 31: E1126-E1140, 2010
Del Bo R, Neurobiology of Aging 32: 1157-1158, 2011

Citation Details

Added: September 11, 2006
Last Modified: January 29, 2010

ID: 298