ENU induced a T-to-C missense mutation (c.389T>C) resulting in an p.L130P mutation in the conserved region of the motor domain of the encoded protein. (J:151965)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count