在第5外显子的一个1bp缺失预测会导致编码蛋白在第553位产生框架移位。在胚胎组织的 Western blot 检测中未检测到这种编码蛋白,表明该等位基因可能是无功能的。(来源:J:201508)
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A 1 bp deletion in exon 5 is predicted to result in a frameshift at amino acid 553 of the endcoded protein. The encoded protein was not detected on Western blot of embryonic tissue, suggesting that this allele is null. (J:201508)