A G-to-A point mutation at coding nucleotide 599/1394/1424 of the transcript (NM_080465/ENSMUST00000066890/NM_001312905) is predicted to result in premature truncation at tryptophan 200/465/475 of the encoded protein (NP_536713:p.W200*, ENSMUSP00000067884:p.W465*, NP_001299834:p.W475*). (J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count