ENU-induced A to C transition at base pair 73,075,544 (v38) on chromosome 9, or base pair 30,735 in the GenBank genomic region NC_000075. The mutation corresponds to residue 503 in the mRNA sequence NM_001301230 (isoform 1) within exon 3 of 7 total exons, residue 354 in the mRNA sequence NM_023635 (isoform 2) within exon 2 of 6 total exons, and residue 396 in the mRNA sequence NM_001301232 (isoform 3) within exon 2 of 6 total exons. The mutation results in an isoleucine (I) to leucine (L) substitution at position 44 (I44L). (J:231802)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count