在17号外显子的一个T到A的单点突变预测会导致编码蛋白的Y778位置变成终止密码子。在胚胎组织的 Western blot 检测中未发现这种编码蛋白,这表明该等位基因可能是无功能的。(来源:201508)
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A T-to-A single point mutation in exon 17 is predicted to result in a Y778 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)