ENU-induced C to T transition at base pair 84,382,295 (v38) on chromosome 12, corresponding to base pair 26,735 in the GenBank genomic region NC_000078. The mutation corresponds to residue 1,157 in the NM_007647 (variant 1) mRNA sequence in exon 11 of 14 total exons, residue 1,230 in the NM_001026214 (variant 2) mRNA sequence in exon 13 out of 16 total exons, residue 1,205 in the NM_001286049 (variant 3) mRNA sequence in exon 12 out of 15 total exons, and residue 1,132 in the NM_001286058 mRNA sequence in exon 11 out of 14 total exons. The mutation results in substitution of arginine 346 to a premature stop codon (R346*) in isoform A of the protein, and substitution of arginine 316 to a premature stop codon in isoform B of the protein. (J:236675)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count