ENU induced a T to C transition (T2996C, GenBank accession no. AJ511873) that results in the amino acid substitution of proline for serine in the C-terminal D4 domain. (J:194148)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count