Table 2 Polymorphisms identified in the non-duplicated region of the PKD1 gene in Czech patients with ADPKD
From: New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
Allele frequency | Exon/Intron | Nucleotide change | Aminoacid change/ Predicted effect | Reference |
|---|---|---|---|---|
3.3% | 35 | c.10529 C>T | p.T3510M | [31] |
20.0% | 35 | c.10535 C>T | p.A3512V | [32] |
4.4% | 36 | c.10768 C>T | p.L3590L | [33] |
1.1% | IVS38 | c.11156+13 G>A | Likely silent | [22] |
1.1% | 40 | c.11346 C>T | p.A3782A (Fig. 3c) | [34] |
2.2% | IVS41 | c.11537+5_+6insGGG | Likely silent | [35] |
2.2% | IVS43 | c.12004-34 C>A | Likely silent | [29] |
17.8% | 44 | c.12133 A>G | p.I4045V | [36] |
3.3% | IVS44 | c.12138+22delG | Likely silent | [37] |
8.9% | 45 | c.12176 C>T | p.A4059V | [36] |
1.1% | 45 | c.12270 C>G | p.L4090L | [38] |
12.2% | 45 | c.12276 A>G | p.A4092A | [39] |
10.0% | 45 | c.12409 C>T | p.L4137L | [39] |
1.1% | 45 | c.12436 G>A | p.V4146I | [39] |
17.8% | 46 | c.12630 T>C | p.P4210P | [40] |
2.2% | 46 | c.12666 C>T | p.L4222L | Current pap. |