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NM_007375.3(TARDBP):c.1028A>G (p.Gln343Arg) AND Amyotrophic lateral sclerosis type 10

Significance: Pathogenic
ClinVar: RCV000005546

Variant: NM_007375.3(TARDBP):c.1028A>G (p.Gln343Arg)

Type: Variant
Allele: NM_007375.3(TARDBP):c.1028A>G (p.Gln343Arg) 20274
Gene:
Type: single nucleotide variant
Location: Chr1: 11082494 - assembly GRCh37
Chr1: 11022437 - assembly GRCh38
References: dbSNP: 80356731
OMIM: 605078.0008
UniProtKB: Q13148#VAR_062767

Condition

Disease: Amyotrophic lateral sclerosis type 10

Citation

    In affected members of a Japanese family with amyotrophic lateral sclerosis (612069), Yokoseki et al. (2008) identified heterozygosity for a 1028A-G transition in the TARDBP gene, resulting in a gln343-to-arg (Q343R) substitution. The mutation occurs in a highly conserved residue and was not present in 534 chromosomes in Japanese control subjects.
PMID:18438952