ENU-induced G to A transition at base pair 66,758,006 (v38) on chromosome 15, or base pair 87,253 in the GenBank genomic region NC_000081 within the donor splice site of intron 36 (1-base pair from exon 36 [out of 48 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 135-base pair exon 36. The mutation would cause an in-frame deletion of 45 amino acids after amino acid 2,085; the wild-type protein is normally 2,766 amino acids in length. (J:272522)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count