ENU induced a point mutation (T to C) that results in the amino acid substitution of proline for leucine at position 638 (L638P) within the conserved metal dependent phosphohydrolase HD domain. (J:166679, J:214072)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count