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TPM2 isbeta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
TPM2 gene in 14 probands with DA1. Only a single mutation was found. This was a C-to-G transversion in nucleotide 271 that resulted in an arginine-to-glycine substitution at amino acid residue 91 (arg91 to gly). It was found in the proband and affected family members of the kindred originally used to map DA1 to chromosome 9.
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