Myo6^M1Btlr

The mutation comprises a T to A transversion at nucleotide position 929 of the mRNA sequence, in the ninth of the gene's 33 exons. It converts a triplet encoding cysteine at amino acid position 236 of the 1262-amino acid myosin VI protein to a premature termination codon (C236Ter). (J:86521, J:161348)