Table 1

Summary of all mutations reported in the SLC26A3 gene worldwide. The three founder mutations are highlighted

Mutation name Exon/intro n Nucleotide change Effect on coding sequence, amino acid change Codon Predicted protein product Patient origin No Ref
Missense
 G120SExon 4G>A at 358Glycine→serine at 120120Conserved residuePoland, Sweden, Norway33
 H124LExon 4A>T at 371Histidine→leucine at 124124Conserved residuePoland, Sweden (Polish origin)31
 P131RExon 5C>G at 392Proline→arginine at 131131Partially conservedUSA23
 S206PExon 6T>C at 616Serine→proline at 206206Conserved residueHolland (Morocco origin)117
 D468VExon 12A>T at 1403Aspartic acid→valine at 468468Conserved residuePoland117
 L496RExon 13T>G at 1487Leucine→arginine at 496496Partially conservedHong Kong32
 I544NExon 15T>A at 1631Isoleucine→asparagine at 544544Conserved residueVietnam217
Nonsense
G187X Exon 5G>T at 559Glycine→STOP at 187187TruncatedSaudi Arabia, Kuwait92
 Y305XExon 8C>A at 915Tyrosine→STOP at 305305TruncatedPoland23
 Q436XExon 11C>T at 1306Glutamine→STOP at 436436TruncatedHolland117
Deletion
 344delTExon 4Deletion of T at 344Frameshift115TruncatedPoland21
 3.5 kb deletionIntron 6–8Deletion of 3.5 kb genomic DNALoss of exons 7 and 8, frameshiftDeletedJapan217
V317del Exon 8Deletion of GGT at 951–953In frame loss of a valine at 317317Present, function abnormalFinland, Sweden (Finnish origin)411
 1342–1343delTTExon 12Deletion of TT at a342–1343Frameshift448TruncatedJapan116
 1516delCExon 14Deletion of C at 1516Frameshift505TruncatedPoland13
 1548–1551delAACCExon 14Deletion of AACC at 1548–1551Frameshift516TruncatedPoland13
 Y527delExon 14Deletion of TTA at1578–1580In frame loss of a tyrosine at 527527DeletedPoland13
 1609delAExon 15Deletion of A at 1609Frameshift537TruncatedCanada12
 2116delAExon 19Deletion of A at 2116Frameshift706TruncatedFinland13
Insertion
 177–178insCExon 3Insertion of C at 177–178Frameshift60TruncatedUSA13
 268–269insAAExon 3Insertion of AA at 268–269Frameshift90TruncatedHong Kong33
I675–676ins Exon 18Insertion of ATC at 2025–2026In frame addition of an isoleucine676Poland123
Replacement
 2104–2105delGGins29bpExon 19Replacement of GG with 29 bp insertionFrameshift703TruncatedNorway217
Splice defect
 IVS5–2A>GIntron 5A>G at 571–2Destruction of the intron acceptor site AGCanada13
 IVS5–1G>TIntron 5G>T at 571–1Destruction of the intron acceptor site AGUSA13
 IVS11–1G>AIntron 11G>A at 1312–1Destruction of the intron acceptor site AGPoland13
 IVS12–1G>CIntron 12G>C at 1408–1Destruction of the intron acceptor site AGGermany (Palestine)117
 IVS13–2delAIntron 13Deletion of A at 1515–2Destruction of the intron acceptor site AGKuwait117