The wavedX mutation has been identified as a T to A transversion at nucleotide position 1186 of the gene, in the ninth of its 19 exons. It changes phenylalanine to isoleucine at amino acid position 343 of the protein (F343I). (J:166602)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count