在exon 11的一个T到A的单点突变预测会导致编码蛋白的C411变为终止密码子。在胚胎组织的 Western blot 检测中未发现这种编码蛋白,表明这个等位基因是无功能的。(来源:201508 J)
查看原文 参与反馈
A T-to-A single point mutation in exon 11 is predicted to result in a C411 to a stop codon in the encoded protein. The encoded protein was not detected on Western blot of embryonic tissue, suggesting that this allele is null. (J:201508)