A T to A transversion at position 596 of the transcript created a premature stop codon in place of cysteine 199. Northern blot revealed abundant transcript in mutant DP thymocytes, putatively encoding an N-terminally truncated protein lacking the targeting, regulating, and catalytic domains. Western blot detected no full-length protein. Kinase activity was about 50% less than that in wild-type thymocytes. (J:89286)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count