ENU induced an A to G transition in exon 5 that results in the amino acid substitution of aspartic acid with glycine at position 73 (D73G). This mutation affects isoforms 1 and 2 but not 3. (J:193640)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count