ENU mutagenesis induced a point mutation at the conserved serine at position 645 of the pseudokinase domain (p.Ser645Pro) corresponding to a somatic human mutation (p.Ser646Phe) inducing constitutive activation of the Janus Kinase/STAT pathway. (J:68708, J:199153)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count