The genomic DNA encoding the aspartic acid residue at codon 1212 (D1212) in the conserved ATP-binding DFG motif of the encoded protein was mutated to a codon specifying alanine. This mutation is expected to abolish the kinase activity of the protein. (J:252034)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count