Table 1.
Characteristics of SLC12A3 mutation among 10 patients with Gitelman syndrome.
| Patients | Genotypes | Nucleotide change (NM_000339.3) | AA change (NP_000330.3) | Topological localization |
|---|---|---|---|---|
| 1 | Compound heterozygous | c.1924C>T + c.2548+253 | p.R642C + Intronic | Transmembrane + C-terminal |
| 2 | Homozygous | c.1670-191C>T + c.1670-C>T | Intronic + Intronic | Transmembrane + Transmembrane |
| 3 | Compound heterozygous | c.2875_76delAG + c.2548+253 | p.R959fs + Intronic | C-terminal + C-terminal |
| 4 | Compound heterozygous | c.2129C>A + c.2875-76delAG | p.S710X + p.R959fs | C-terminal + C-terminal |
| 5 | Compound heterozygous | c.488C>T+c.2660+1G>A | p.T163M + splicing | Transmembrane + C-terminal |
| 6 | Compound heterozygous | c.1000C>T+c.1326C>G | p.R334W + p.N442K | Transmembrane + Transmembrane |
| 7 | Homozygous | c.1670-191C>T + c.1670-C>T | Intronic+ Intronic | Transmembrane + Transmembrane |
| 8 | Compound heterozygous | c.2129C>A + c.2875_76delAG | p.S710X + p.R959fs | C-terminal + C-terminal |
| 9 | Compound heterozygous | c.911C>T/c.2875_76delAG | p.T304M + p.R959fs | Transmembrane + C-terminal |
| 10 | Compound heterozygous | c.2532G>A+c.805-06insTTGGCGTGGTCTCGG | p.W844X + p.T269delinsIGVVSA | C-terminal + Transmembrane |