Table 2.
Tissue | Histology/type | Gene | Zygosity | cDNA | Protein | Mutation | References |
---|---|---|---|---|---|---|---|
Breast | Pleomorphic lobular carc. | WNK1 | Hetero | c.1255G>C | p.E419Q | Missense | [109, 111] |
Breast | IDC | WNK1 | Hetero | c.5395C>G | p.Q1799E | Missense | [109–111] |
Breast | Pleomorphic lobular carc. | WNK1 | Hetero | c.6569C>G | p.S2190C | Missense | [109, 111] |
Ovary | Serous carcinoma | WNK1 | Hetero | c.2829C>T | p.Y943Y | Silent | [111] |
Colon | Colorectal | WNK1 | Hetero | c.3596A>G | p.E1199G | Missense | [110] |
Brain | Glioblastoma | WNK1 | Hetero | c.5293G>A | p.G1765S | Missense | [112] |
Lung | Adenocarcinoma | WNK1 | Homo | c.7086C>A | p.F2362L | Missense | [108, 111] |
Colorectal | Adenocarcinoma | WNK2 | Hetero | c.1964delC | p.P655 fs*2 | Frameshift deletion | [111] |
Brain | Glioblastoma | WNK2 | Hetero | c.3799G>A | p.A1267T | Missense | [112] |
Stomach | Adenocarcinoma | WNK2 | Hetero | c.4269delC | p.S1424 fs*5 | Frameshift deletion | [111] |
Lung | Neuroendocrine carcinoma | WNK2 | Hetero | c.5009G>A | p.G1670E | Missense | [108, 111] |
Lung | Adenocarcinoma | WNK2 | Hetero | c.6089G>T | p.S2030I | Missense | [108, 111] |
Ovary | Serous carcinoma | WNK2 | Hetero | c.1528G>T | p.V510L | Missense | [111] |
Ovary | Mucinous carcinoma | WNK2 | Hetero | c.6798delC | p.T2267 fs*31 | Frameshift deletion | [111] |
Glioma | Glioblastoma | WNK3 | Hetero | c.2784C>T | p.H928H | Silent | [111] |
Lung | Squamous cell carcinoma | WNK3 | Hetero | c.2561C>G | p.S854C | Missense | [111] |
Lung | Large cell carcinoma | WNK3 | Hetero | c.4599G>T | p.L1533F | Missense | [111] |
Kidney | Clear cell carcinoma | WNK3 | Hetero | c.3809C>A | p.T1270 N | Missense | [111] |
Kidney | Clear cell carcinoma | WNK3 | Hetero | c.4900T>C | p.S1634P | Missense | [111] |
Ovary | Mucinous carcinoma | WNK4 | Hetero | c.1338C>G | p.D446E | Missense | [111] |
Melanoma | Metastatic | WNK4 | Hetero | c.1438C>T | p.L480L | Silent | [111] |
Melanoma | Not described | WNK4 | Hetero | c.3010C>T | p.P1004S | Missense | [111] |
Melanoma | Not described | WNK4 | Hetero | c.3190C>T | p.P1064S | Missense | [111] |
Stomach | Adenocarcinoma | WNK4 | Hetero | c.1822delG | p.V608 fs*53 | Frameshift deletion | [111] |
Note that the nucleotide and codon designations of WNK2 and WNK4 mutations described in [108, 111] required correction because they were based on incomplete protein sequences. Because the sequence context for each of the mutation described in these references is available online at http://www.sanger.ac.uk/perl/genetics/CGP/cgp_viewer?action=bygene&letter=W&mutant=1, the mutations could be unambiguously localised in the full length cDNA and protein sequences, allowing correction of their designations (as full length reference sequences, we used Ensembl gene IDs ENST00000315939 (WNK1), ENST00000297954 (WNK2), ENST00000354646 (WNK3) and ENST00000246914 (WNK4), all available at http://www.ensembl.org/index.html)