Table 1.
Distribution of heterozygous mutations causing ADTKD-REN mutations by mutation group and family.
| Mutation group | Nucleotide change | Mutation | Families (n) | Individuals (n) |
|---|---|---|---|---|
| Signal | c. 28T>C | p.Trp10Arg | 1 | 5 |
| c.35T>C | p.Leu12Pro | 1 | 1 | |
| c. 38T>A | p.Leu13Gln | 1 | 1 | |
| c.45_47del | p.delLeu16 | 6 | 28 | |
| c. 47T>C | p.Leu16Pro | 3 | 11 | |
| c. 47T>G | p.Leu16Arg | 2 | 9 | |
| c. 49T>C | p.Trp17Arg | 4 | 9 | |
| c. 58T>C | p.Cys20Arg | 3 | 5 | |
| Signal total | 21 | 69 | ||
| Prosegment | c.77C>T | p.Thr26Ile | 2 | 19 |
| c. 116T>A | p.Met39Lys | 1 | 5 | |
| c.142G>A | p.Glu48Lys | 1 | 3 | |
| Prosegment total | 4 | 27 | ||
| Mature | c. 973T>C | p.Cys325Arg | 1 | 3 |
| c. 1097T>A | p.Ile366Asn | 1 | 2 | |
| c. 1142T>C | p.Leu381Pro | 1 | 5 | |
| c. 1172C>G | p.Thr391Arg | 1 | 4 | |
| c. 255G>C | p.Gln85His | 1 | 1 | |
| Mature Total | 5 | 15 | ||
| Total | 30 | 111 |