A G-to-T transversion mutation in codon 261 converts a tryptophan residue in the homeodomain to a cysteine in the encoded protein (p.W261C). (J:10774, J:10998)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count