A point mutation resulted in a cysteine to alanine substitution at position 379 (C379A). Western blot showed that protein levels in thymocytes were not affected by the mutation. (J:103366)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count