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] |