The mutation is an A to T transversion at base pair 46,311,626 (v38) on chromosome 19, or base pair 8,015 in the GenBank genomic region NC_000085. The mutation corresponds to residue 2,821 in the mRNA sequence NM_019408 (variant 1) within exon 21 of 22 total exons, to residue 2,670 in the mRNA sequence NM_001177369 (variant 2) within exon 22 of 23 total exons, and residue 2,586 in the mRNA sequence NM_001177370 (variant 3) within exon 21 of 22 total exons. The mutation results in a methionine (M) to leucine (L) substitution at position 838 (M838L) in all isoforms of the protein. (J:221493)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count