The mutation has been identified as a T to A transversion that is predicted to result in replacement of leucine by glutamine at amino acid position 342 of the myosin IIb (MYH4) motor domain (L342Q). (J:181892)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count