GRN Thr182 Mutation Details

(Table Legend)

Gene

GRN

Name

g.1361G>A (relative to Met1 in Reverse Complement of AC003043.1)
g.10403G>A (relative to nt1 in NG_007886.1)

Alias

Thr182

Description

Silent point mutation in coding region

Codon Change

From ACG to ACA

Details

Genomic

cDNA

Protein

Observed

g.1361G>A

Predicted

c.546G>A

p.T182

Region

EX6

CDS

InterFB

Notes

Observed in 2 African individuals 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

Citation Details

Added: March 22, 2010

ID: 558