The toffee mutation corresponds to T-to-C transition in the donor splice site of intron 9 (GTAATT->GCAATT) (nucleotide position 16609 in the Genbank genomic region NC_000073) that destroys the splice site, resulting in the usage of a downstream sequence within intron 9 for splicing. Thus, 23 nucleotides from the 5' end of intron 9 are inserted into the transcript and the reading frame shifts folowing the insertion. (J:133272)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count