The genomic DNA encoding the ATP-binding DFG motif is mutated to encode an AFG sequence, rwhich is predicted to result in the production of a kinase-dead protein. (J:236061)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count