ENU mutagenesis indced a T to a transversion at position 4025 (c.4025T>A, GenBank FJ50876) resulting in an amino acid substitution of asparagine for isoleucine at position 1342 (p.I1342N). This mutation is predicted to destabilize the beta sandwich structure of the protein. (J:154318)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count