中国人群中抗结核药物引发肝损伤的易感基因标记研究
周晨希, 李沫, 怀聪, 贺林, 秦胜营

Study on hereditary susceptibility genetic markers to anti-tuberculosis drug induced liver injury in Chinese population
Zhou Chenxi, Li Mo, Huai Cong, He Lin, Qin Shengying
表4 显著性SNP/SNV突变位点蛋白功能影响预测
Table 4 Significant SNP/SNVs mutation sites affecting protein function potential
基因 编号 位置 等位基因 氨基酸改变 SIFT预测 PolyPhen2预测
UGT1A4 rs2011404 编码区 T>G C157W或C157C deleterious Probably damaging
CYP2D6 rs16947 编码区 G>A R296C或R274C或R245C tolerated Benign
CYP2S1 rs338599 编码区 C>G P74P tolerated -