Review
Copyright ©The Author(s) 2015.
World J Gastroenterol. Jun 14, 2015; 21(22): 6861-6871
Published online Jun 14, 2015. doi: 10.3748/wjg.v21.i22.6861
Table 1 Identification of mutations in mismatch repair genes in China
GeneBase variationAmino acid changeRef.
MLH1g.677G>AArg226Gln[7]
c.107T>AIle36Asn[14]
IVS2-1G>A(intron)[14]
c.488delG(intron)[14]
c.497T>ALeu166Och[14]
c.498A>CLeu166Phe[14]
c.572G>TSer191Ile[14]
c.910T>AVal307Glu[14]
c.949C>ALeu317Met[14]
c.1246A>GLys416Glu[14]
c.1731G>C-[14]
c.1823C>AAla608Asp[14]
c.1988A>CGlu663Ala[14]
c.2038T>CCys680Arg[14]
c.2101C>AGln701Lys[14,16-18]
c.2251_2insAA-[14]
c.1625A>T[18,90]
c.194G>A[18,19]
c.199G>A[18,20,21]
c.649C>T[18,20,21]
c.1646T>C[18]
c.1721T>C[18]
c.1742C>T[18]
c.1344insGGlu448Glyfs*30[27]
c.157delGAGGGlu54Alafs*2[22]
c.-64G>T(promoter)[22]
c.2157dupTVal720Cysfs*3[22]
c.1731+15delT-[23]
c.503_4insA(frame shift)[49]
MSH2g.610G>TGly204X[7]
c.1452-1455delAATG-[31]
c.2108C>ASer703Tyr[24]
c.2583A>GQ861Q[10,49]
c.899_890insAT(frame shift)[49]
IVS7-1G>A(splice junction)[49]
c.−78_−79delGT(promoter)[28]
c.1216_1219dupCGACL407fsX417[29]
c.23C>TThr8Met[14,66]
c.1571G>TArg524Leu[14]
c.1917T>AHis639Gln[14]
c.1955C>APro652His[14]
c.2047G>AGly683Arg[14]
c.206-?_792+?del-[5]
c.1077-?_1276+?del-[5,83]
c.1387-?_1510+?del-[5]
c.2211-?_818+?del-[5]
c.2635+?_(*3084)del-[5]
c.2196T>C-[24]
c.2963C>G-[24]
MSH6c.2297delAHis766Leufs*8[27]
c.3488A>TGlu>Val[30]
PSM2c.1532C>TThr>Met[37]
MLH3c.2152C>TPro718Scr[25]
c.2615C>GScr872Stop[25]
c.3488G>AGly1163Asp[25]
c.666G>ALys222Lys[25]
c.4335C>AGln1445Gln[25]