The bm23 mutation consists of two nucleotide substitutions that result in amino acid changes at codons 75 (arginine to histidine) and 77 (aspartate to serine). A Gly to Lys change at codon 90 has also been reported. (J:12798, J:28838)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count