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NM_007375.3(TARDBP):c.869G>C (p.Gly290Ala) AND Amyotrophic lateral sclerosis type 10

Significance: Pathogenic
ClinVar: RCV000005542

Variant: NM_007375.3(TARDBP):c.869G>C (p.Gly290Ala)

Type: Variant
Allele: NM_007375.3(TARDBP):c.869G>C (p.Gly290Ala) 20270
Gene:
Type: single nucleotide variant
Location: Chr1: 11082335 - assembly GRCh37
Chr1: 11022278 - assembly GRCh38
References: dbSNP: 121908395
OMIM: 605078.0004
UniProtKB: Q13148#VAR_045659

Condition

Disease: Amyotrophic lateral sclerosis type 10

Citation

    In a Caucasian father and daughter with autosomal dominant ALS10 (612069), Van Deerlin et al. (2008) identified a heterozygous 869G-C transversion in exon 6 of the TARDBP gene, resulting in a gly290-to-ala (G290A) substitution in the C-terminal region of TDP43. The mutation was not identified in 747 white controls. The daughter presented with dysarthria and dysphagia at age 51 years and had a rapidly progressive course involving the limbs and respiration. She died after 13 months. Her father had presented with arm weakness at age 47 years and died after 16 months. Postmortem examination showed findings consistent with ALS.
PMID:18396105