ENU-induced G to T transversion at base pair 15,725,461 (v38) on chromosome 16, or base pair 88,035 in the GenBank genomic region NC_000082 within the splice donor site of intron 40 (1-base pair from exon 40 [out of 86 total exons]). 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 128-base pair exon 40. The mutation would cause a frame-shifted protein product beginning after amino acid 1,742 of the protein (which is normally 4,128 amino acids in length) and termination after the inclusion of 20 aberrant amino acids. (J:274730)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count