rs727502811
This is a variant in the TOR1A gene that changes a arginine to an glutamine.
▶ClinVar annotation
Dystonic disorder; Early-onset generalized limb-onset dystonia; TOR1A-related disorder
View on ClinVar →▶Research that mentions this SNP (1)
▶ε‐sarcoglycan mutations found in combination with other dystonia gene mutationsFunctionalN=1,264Christine Klein et al.(2002)· Annals of Neurology
High-resolution melting (HRM) analysis of TOR1A Exon 5 in 1,014 subjects with primary dystonia and 250 controls identified only two carriers of the classic Δ GAG deletion and no c.863G>A mutations. HRM demonstrated 100% diagnostic sensitivity and specificity for detecting TOR1A mutations, establishing it as an efficient screening method for dystonia genetic testing.
About TOR1A
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
View all TOR1A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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