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Table 2 Sequence changes identified in PKD1 and PKD2. PKD1 cDNA reference sequence is Entrez:NM_000296 (RefSeq database) and PKD2 cDNA reference sequence is Entrez:NM_000297 (RefSeq database).

From: PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

Sequence change Location Amino Acid Change Predicted effect on protein Found in family Reference
c.8509C>T exon 23 (PKD1) no change silent polymorphism 02 present study
c.8522G>A exon 23 (PKD1) p.E2771K missense mutation 25 [18]
c.8675G>A exon 23 (PKD1) p.V2822M probably polymorphism 09 present study
c.11477+128C>T intron 39 (PKD1) intronic polymorphism 19, 25, 39, 43, 46 present study
c.11693_11697dup exon 41 (PKD1) frameshift premature stop codon 41 present study
c.11745+3_5dup intron 41 (PKD1) intronic possibly influences splicing 38 [34]
c.11820_11845del exon 42 (PKD1) frameshift premature stop codon 20 present study
c.12124C>T exon 43 (PKD1) no change silent polymorphism 12, 27 present study
c.12341A>G exon 44 (PKD1) p.I4044V polymorphism 11, 19, 21, 25, 27, 39, 43, 46, 49 [35]
c.12346+22del intron 44 (PKD1) intronic polymorphism 12, 27 [36]
c.12375G>A exon 45 (PKD1) p.W4055X nonsense mutation 50 present study
c.12772dup exon 46 (PKD1) frameshift premature stop codon 11 present study
c.12838T>C exon 46 (PKD1) no change silent polymorphism 11, 19, 21, 25, 27, 39, 43, 46, 49 [37]
c.12973C>T exon 46 (PKD1) no change silent polymorphism 20 [38]
c.83G>C exon 1 (PKD2) p.R28P polymorphism 31 [39]
c.362C>G exon 1 (PKD2) p.G121A probably polymorphism 31 present study
c.844-22 G>A intron 3 (PKD2) no change polymorphism 31 [40]
c.916C>T exon 4 (PKD2) p.R306X nonsense mutation 10 [40]