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. 2010 Jan 22;67(8):1265–1276. doi: 10.1007/s00018-010-0261-6

Table 2.

List of somatic WNK mutations identified in different unbiased cancer genome sequencing efforts (corresponding references are indicated)

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 [109111]
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)