Table 1

Novel mutations and polymorphisms detected in the Wilson disease gene

MutationNucleotideChrExonDomainOrigin%1-151
1-150267insG /Ala874ValCATGGAA12Cu1Turkish1
1-150Gln110ter HomozygousCAA→TAA22Cu1Turkish2
1-150Gly711Arg/Arg1041TrpGGG→AGG18Tm2Italian0.4
1-150Tyr741ter/His1069GlnTAT→TAA18Tm3Italian0.4
1-150Ala1003Val/1707+3insTGCG→GTG113Ch/Tm6Turkish1
1-150Arg1041Pro/UnknownCGG→CCG114ATPloopItalian0.4
1-150Gly1061Glu/Pro840LeuGGG→GAG214ATPloopTurkish3
Gly1061Glu/1782delT
1-150Ala1063Val/1744delATGCG→GTG114ATPloopItalian0.4
1-150Glu1068Gly/His1069GlnGAA→GGA114SEHPLItalian0.4
1-150Cys1104Phe HomozygousTGC→TTC315ATPloopTurkish3
Cys1104Phe/Met1169Thr
1-150Gln1142ter/Arg969GlnCAG→TAG116ATPloopItalian
1-150Arg1151His/Gly1089GluCGT→CAT116ATPloopTurkish1
1-150Met1169Thr/Cys1104PheATG→ACG116ATPloopTurkish1
1-150Glu1173Lys/2530delAGAG→AGG216ATPloopItalian0.9
Glu1173Lys/Gly710Ser
1-150Asp1222Val/Leu1327ValGAC→GTC217ATPbindingTurkish2
1-150Val1262Phe HomozygousGTC→TTC318ATPloopItalian1.3
Val1262Phe/Arg969Gln
1-150Leu1327Val/Asp1222ValCTA→GTA119Tm7Turkish1
1-150Ser1363Phe HomozygousTCT→TTT220Tm8Turkish2
1-150Thr1434Met/UnknownACG→ATG1213’-COOHItalian0.4
Polymorphisms
Arg1054ArgAGG→CGG114ATPloopTurkish
His1207ArgCAC→CGC317ATPloopTurkish, Italian
Asp1215AspGAC→GAT117ATPloopItalian
3699+27 T→C117ATPloopItalian
Val1297IleGTC→ATC118ATPloopTurkish
Ser1370SerTCC→TCT120Tm8Turkish
Lys1437LysAAG→AAA1213’-COOHItalian
  • 1-150 In the genotype we have reported the novel mutation on the left and the known mutation detected in the opposite chromosome on the right.

  • 1-151 The frequency of the new mutation in the specific population is reported (our unpublished data).