ENU-induced T to A transversion at base pair 138,113,562 (v38) on chromosome 1, or base pair 62,195 in the GenBank genomic region NC_000067 within the splice donor site of intron 9 (2-base pairs from exon 9). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in intron 9. The resulting transcript would have a 53-base pair insertion of intron 9 that would cause an in-frame protein product beginning after amino acid 203 of the protein [which is normally 1,293 amino acids in length (isoform 1)], and termination after the inclusion of 13 aberrant amino acids. (J:272745)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count