Pax3^M1Btlr

The mutation is a G to A transition at base pair 78,122,590 (v38) on chromosome 1, or base pair 74,927 in the GenBank genomic region NC_000067 within the donor splice site of intron 6. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 166-nucleotide exon 6 (out of 9 total exons), resulting in a frame-shift and coding of 60 aberrant amino acids followed by a premature stop codon. (J:221484)