GRN Asp518 Mutation Details

(Table Legend)

Gene

GRN

Name

g.3317C>T (relative to Met1 in Reverse Complement of AC003043.1)
g.12359C>T (relative to nt1 in NG_007886.1)

Alias

Asp518

Description

Silent point mutation in coding region

Codon Change

From GAC to GAT

Details

Genomic

cDNA

Protein

Observed

g.3317C>T

Predicted

c.1554C>T

p.D518

Region

EX12

CDS

GranE

Notes

Observed in 1 ALS patient and 1 Caucasian individual of the Human Genome Diversity Panel

Phenotype

No Neurodegenerative Phenotype (Not pathogenic)

Function

No Functional data available

Citations

Guerreiro RJ, Human Mutation 31: E1126-E1140, 2010
Del Bo R, Neurobiology of Aging 32: 1157-1158, 2011

Citation Details

Added: August 24, 2009
Last Modified: March 22, 2010

ID: 515