MAPT His14 Mutation Details

(Table Legend)

Gene

MAPT

Name

g.75784C>T (relative to Met1 in AC091628.2)
g.72958C>T (relative to nt1 in NG_007398.1)

Alias

His14

Description

Silent point mutation in coding region

Codon Change

From CAC to CAT

Details

Genomic

cDNA

Protein

Observed

g.75784C>T

Predicted

c.42C>T

p.H18

Region

EX1

CDS

N-Term

Notes

Observed in 1 African 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

Citation Details

Added: March 22, 2010

ID: 562