Myo5a^d-n2Btlr

The mutation is a C-to-T transition at nucleotide position 5255 (Genbank Accession NM_010864), in exon 37 of 41 total exons, that changes the codon for glutamine 1610 to a stop codon (p.Q1610*). The protein lacks the C-terminal 243 amino acids, which encode part of the globular tail domain (GTD). (J:133120)