Exon 6 was replaced with a neo cassette, removing the conserved 2-oxoglutarate interaction domain (RvNmTvR) and parts of the iron-binding cluster (HvD...H) essential for enzymatic activity. (J:166841)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count