这种自发的G变C突变(在正链上是C变G),导致第1018位的氨基酸由arginine替换为proline,表现为p.R1018P。 Western blot分析证实了正常蛋白质表达水平。(来源:195831)
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A spontaneous G-to-C point mutation (C-to-G on forward strand) results in the amino acid substitution of arginine with proline at position 1018 (p.R1018P). Western blot analysis confirmed normal protein expression levels. (J:195831)