ENU-induced A to G transition at base pair 30,877,534 (v38) on chromosome 7, or base pair 2,808 in the GenBank genomic region NC_000073. The mutation corresponds to residue 709 in the mRNA sequence NM_001043317 (variant 1) within exon 5 of 16 total exons and to residue 584 in the mRNA sequence NM_009845 (variant 2) within exon 3 of 14 total exons. The mutated nucleotide is indicated in red. The mutation results in an isoleucine to threonine substitution at position 116 (I116T) in both isoforms of the protein. (J:254827)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count