The ND6 mutation corresponds to an A to G transition at position 1982 of the transcript, in exon 9 of 10 total exons (Genbank record NM_145827). The mutation is located in the third coding exon and causes an arginine to glycine substitution at amino acid 586 of the protein. (J:164866)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count