Table 2.
Summary of DNA sequencing results. a) Pathogenic variants identified by DNA sequencing (cases 1–3). (Codon: a sequence of three nucleotides within DNA or messenger RNA that encodes for a specific amino acid; Frameshift mutation: a disruption of the reading frame used for translation from messenger RNA into amino acid by the insertion or deletion of a number of nucleotides that are a non-multiple of three into a group of codons; Stop codon: a tri-nucleotide sequence, or codon, within a messenger RNA which signals a termination of translation) b) Sequence variants identified by DNA sequencing (case 4). GenBank reference files: L33233 (PKD1 cDNA position), AAC37576 (PKD1 amino acid position), NM000297 (PKD2 cDNA position) and NP00288 (PKD2 amino acid position) (http://www.ncbi.nlm.nih.gov/Web/Genbank/).
| a. Summary of pathogenic variants identified by DNA sequencing (cases 1–3) | ||
|---|---|---|
| Case | DNA/Protein Variant | Variant Type |
| 1 | PKD1 Exon 45: 12608delC, codon position 4133 | Frameshift mutation |
| 2 | PKD1 Exon 15: G3694A, T1161X | Stop codon |
| 3 | PKD1 Exon 1: 364delC, codon position 51 | Frameshift mutation |
| b. Sequence variants identified by DNA sequencing (case 4) | |||
|---|---|---|---|
| DNA Variant | Codon Position | Amino Acid Change | Variant type |
| PKD1: C2387T | 726 | Leucine → Phenylalanine | Unknown amino acid change |
| PKD1: AIVS 9−4G | N/A | N/A | Unknown polymorphism |
| PKD1: TIVS27−13C | N/A | N/A | Unknown polymorphism |
| PKD1: AIVS30+54G | N/A | N/A | Unknown polymorphism |
| PKD1: T12838C | 4209 | None | Unknown polymorphism |
| PKD1: G13135A | 3’UTR | None | Unknown polymorphism |
| PKD1: IVS9+28del7 | N/A | N/A | Unknown polymorphism |
| PKD1: G2911A | 900 | None | Known polymorphism |
| PKD1: C2941T | 910 | None | Known polymorphism |
| PKD1: A4876C | 1555 | None | Known polymorphism |
| PKD1: T7376C | 2389 | None | Known polymorphism |
| PKD1: C7652C | 2481 | None | Known polymorphism |
| PKD1: AIVS24−17G | N/A | N/A | Known polymorphism |
| PKD1: G9406C | 3065 | None | Known polymorphism |
| PKD1: T9407C | 3066 | Phenylalanine → Leucine | Known polymorphism |
| PKD1: T9541C | 3110 | None | Known polymorphism |
| PKD1: C10743T | 3511 | Alanine → Valine | Known polymorphism |
| PKD1: A12341G | 4044 | Isoleucine → Valine | Known polymorphism |
| PKD1: C12384T | 4058 | Alanine → Valine | Known polymorphism |
| PKD1: A12484G | 4091 | None | Known polymorphism |
| PKD1: C12617T | 4136 | None | Known polymorphism |
| PKD2: G149C | 28 | Arginine → Proline | Known polymorphism |