这种表型突变是在ENU诱变筛选中发现的,涉及第1601位点上的一个T到C转换,导致蛋白质(W504R)第504位的色氨酸被arginine替换,该蛋白质位于激酶域。在纯合突变和杂合突变的胸腺细胞中,该蛋白的水平分别约为野生型细胞的25%和50%。 (Source: The phenotypic mutation refers to a T-to-C change at position 1601, resulting in a W504R change in the protein, located in the kinase domain, with homozygous and heterozygous mutant thymocytes showing protein levels approximately 25% and 50% compared to wild-type ones.)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count