ENU-induced T to C transition at base pair 72,015,636 (v38) on chromosome 9, or base pair 96,184 in the GenBank genomic region NC_000075 within the splice donor site of intron 4. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 74-base pair exon 4. The mutation would cause a frame-shifted protein product beginning after amino acid 50 of the protein, which is normally 706 amino acids in length, and termination after the inclusion of eight aberrant amino acids. (J:271971)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count