Table 3. Pathogenic deafness mutations in TMPRSS3 identified in previous studies.
| Ethnicity | Nucleotide | AminoAcid Change | FunctionalDomain | Type ofVariant | Reference |
| British | c.413C>G | p.Ala138Glu | SRCR | mis | 13 |
| Dutch | c.595G>A | p.Val199Met | SRCR | mis | 13, 26 |
| Pakistani | c.207delC | p.Thr70fs | LDLRA | del | 17, 18 |
| Spanish | |||||
| Greek | |||||
| Newfoundlander | |||||
| German | c.916G>A | p.Ala306Thr | TM | mis | 12, 14,19 |
| Korean | |||||
| Dutch | c.1276G>A | p.Ala426Thr | TM | mis | 13 |
| Turkish | c.647G>T | p.Arg216Leu | TM | mis | 17 |
| Pakistani | c.325C>T | p.Arg109Trp | LDLRA | mis | 9, |
| Korean | |||||
| Pakistani | c.581G>T | p.Cys194Phe | SRCR | mis | 9 |
| Turkish | c.1192C>T | p.Gln398X | TM | mis | 20 |
| Tunisian | c.1211C>T | p.Pro404Leu | TM | mis | 20 |
| UK Caucasian | c.268G>A | p.Ala90Thr | LDLRA | mis | 21, 22 |
| Moroccan | |||||
| Greek | c.308A>G | p.Asp103Gly | LDLRA | mis | 18 |
| German | c.646C>T | p.Arg216Cys | TM | mis | 14 |
| Pakistani | c.1219T>C | p.Cys407Arg | TM | mis | 9, 16, 17 |
| Korean | c.743C>T | p.Thr248Met | TM | mis | 12 |
| Pakistani | c.767C>T | p.Arg256Val | TM | mis | 16 |
| Tunisian | c.753G>C | p.Trp251Cys | TM | mis | 10 |
| Pakistani | c.1273T>C | p.Cys425Arg | TM | mis | 16 |
| Pakistani | c.310G>A | p.Glu104Lys | LDLRA | mis | 16 |
| c.310G>T | p.Glu104Stop | non | |||
| Palestinian | c.1180_1187del8ins68 | _ | TM | _ | 8 |
| Italian | c.1019C>G | p.Thr340Arg | TM | mis | 23 |
| Italian | c.1291C>T | p.Pro431Ser | TM | mis | 23 |
| Newfoundlander | c.782+8insT | - | TM | - | 17 |
TM: transmembrane domain; LDLRA: low-density lipoprotein receptor A domain; SRCR: scavenger-receptor cysteine rich domain; Mis: missense; Del: delete; Non: nonsense.