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Table 3 Polymorphism and haplotype analysis detected PH 1 patients

From: Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1

Mutation Ex. 1 I.1 Ex. 2 I.2 I.3 I.5 Ex. 6 Ex. 10 3, Haplotype
c.32C > T c.65A > G c.165 + 16A > G c.165 + 19_165 + 92dup74 c.264C > T c.358 + 13C > T c.423 + 29C > T c.595 + 100G > A c.654G > A c.1020A > G c.*41C > A
p.Pro11Leu p.Asn22Ser p.Ala88Ala   p.Ser218Ser p.Ile340Met  
  rs34116584 rs34885252 rs66494441 rs180177174 rs35698882 rs34995778 rs117043148 rs12997245 rs33958047 rs4426527 rs4273214  
c.305 T > A (p.Val102Asp) TT AA GG + TT TT CC GG GG GG CC Min
c.322 T > C (p.Trp108Arg) TT AA GG + TT TT CC GG GG GG CC Min
c.1007 T > A (p.Val336Asp) TT AA GG + TT TT CC GG GG GG CC Min
c.584 T > G (p.Met195Arg) TT AA GG + TT TT CC GG GG GG CC Min
c.602A > T (p. Asp201Val) CC GG GG + CC CC TT GG GG GG AA Min
c.359-1_382del CC AA AA CC CC CC GG GG AA CC Maj
c.33_34insC (p.Lys12fs) CC AA AA CC CC CC GG GG AA CC Maj
c.603C > A (p.Asp201Glu) CC AA AA CC CC CC GG AA AA CC Maj
c.866G > A (p.Arg289His) CC AA AA CC CC CC AA GG AA AA Maj
c.971-972delTG (p.Val324fs) CC AA AA CC CC CC AA GG AA CC Maj
c.198C > A (p.Tyr66X) CC AA AA CC CC CC AA GG AA CC Maj