在exon 29的一个C到T的单点突变预测会导致编码蛋白质的L1045P氨基酸替换。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 J)
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A T-to-C single point mutation in exon 29 is predicted to result in a L1045P 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)