在exon 3的一个T到A的单点突变预测会导致编码蛋白中出现C178S的氨基酸替换。在胚胎组织的 Western blot 检测中未检测到这种编码蛋白,这表明该等位基因可能是无功能的。(来源:201508)
查看原文 参与反馈
A T-to-A single point mutation in exon 3 is predicted to result in a C178S amino acid substitution in the encoded protein. The encoded protein was not detected on Western blot of embryonic tissue, suggesting that this allele is null. (J:201508)