An A to T transversion at position 531 in exon 6 of Myo7a was identified and is predicted to cause an isoleucine-to-phenylalanine amino acid substitution at position 178, however no evidence of complementation was found when homozygotes were mated with heterozygous Myo7a4626SB. (J:93998)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count