MAPT Ala227 Mutation Details

(Table Legend)

Gene

MAPT

Name

g.109929A>G (relative to Met1 in AC091628.2)
g.107103A>G (relative to nt1 in NG_007398.1)

Alias

Ala227

Description

Silent point mutation in coding region

Codon Change

From GCA to GCG

dbSNP ID

rs1052553

Details

Genomic

cDNA

Protein

Observed

g.109929A>G

Predicted

c.1686A>G

p.A562

Region

EX9

CDS

Phenotype

No Neurodegenerative Phenotype (Not pathogenic)

Function

No Functional data available

Citations

Rizzu P, American Journal of Human Genetics 64: 414-421, 1999
Baker M, Human Molecular Genetics 8: 711-715, 1999
Houlden H, Annals of Neurology 46: 243-248, 1999
Roks G, Neuroscience Letters 277: 137-139, 1999
Poorkaj P, Archives of Neurology 58: 383-387, 2001
Ingelson M, Neuroreport 12: 905-909, 2001
Levchenko A, The Canadian Journal of Neurological Sciences 31: 363-367, 2004
Stanford PM, Journal of Neurology 251: 1098-1104, 2004
Guerreiro RJ, Human Mutation 31: E1126-E1140, 2010

Citation Details

Added: April 21, 2004
Last Modified: March 20, 2010

ID: 219