Myo5a^d-nBtlr

The mutation is a G-to-T transversion at nucleotide position 2505 (Genbank Accession NM_010864), in exon 17 of 41 total exons, resulting in the replacement of serine by isoleucine at position 693 (p.S693I) in the tail domain, near the C-terminal end of the head domain (aa 1-887) of the protein. (J:133119)