Table 3.
Overview of TMPRSS3 mutations described in DFNA8/10, including those identified in the present study.
| Mutation | Protein change | Exon | Domain | Origin | Mutation classification | Reference |
|---|---|---|---|---|---|---|
| c.323-6G>A | Intron4 | LDLRA | Chinese Korean |
Mild | Present study Ahmed et al., 2004 Weegerink et al., 2011 |
|
| c.809T>A | p.Ile270Asn | E9 | Serine protease | Chinese | Severe | Present study |
| c.916G>A | p.Ala306Thr | E9 | Serine protease | Chinese German Korean Dutch |
Severe | Present study Gao et al., 2017 Chung et al., 2014 Lee et al., 2013 Weegerink et al., 2011 |
| c.1151T>G | p.Met384Arg | E11 | Serine protease | Chinese | Severe | Present study |
| c.1204G>A | p.Gly402Arg | E12 | Serine protease | Chinese | Severe | Present study |
| c.1244T>C | p.Leu415Ser | E12 | Serine protease | Chinese | Severe | Present study |
| c.1250G>A | p.Gly417Glu | E12 | Serine protease | Chinese | Severe | Present study |
| c.36delC | p.Pro12fs | E2 | TM | Chinese | Severe | Gao et al., 2017 |
| c.36dupC | p.Phe13fs | E2 | TM | Turkish | N/A | Diaz-Horta et al., 2011 |
| c.208delC | p.Thr70fs | E4 | LDLRA | Pakistani Spanish Greek Newfoundlander |
Severe | Ahmed et al., 2004 Weegerink et al., 2011 Battelino et al., 2016 |
| c.268G>A | p.Ala90Thr | E4 | LDLRA | UK Caucasian Moroccan |
N/A | Charif et al., 2012 |
| c.296C>A | p.Ser99X | E4 | LDLRA | Chinese | Severe | Gu et al., 2014 |
| c.308A>G | p.Asp103Gly | E4 | LDLRA | Greek | N/A | Wattenhofer et al., 2002 |
| c.310G>A | p.Glu104Lys | E4 | LDLRA | Pakistani | N/A | Lee et al., 2012 |
| c.310G>T | p.Glu104X | E4 | LDLRA | Pakistani | N/A | Lee et al., 2012 |
| c.316C>T | p.Arg106Cys | E4 | LDLRA | Chinese Japanese |
Mild | Gao et al., 2017 Miyagawa et al., 2013 |
| c.325C>T | p.Arg109Trp | E5 | SRCR | Pakistani Korean |
Severe | Ahmed et al., 2004 Ben-Yosef et al., 2001 |
| c.326G>A | p.Arg109Gln | E5 | SRCR | Chinese | Mild | Gu et al., 2014 |
| c.413C>G | p.Ala138Glu | E5 | SRCR | British Korean |
Mild | Weegerink et al., 2011 |
| c.581G>T | p.Cys194Phe | E6 | SRCR | Pakistani | Severe | Ahmed et al., 2004 Ben-Yosef et al., 2001 |
| c.595G>A | p.Val199Met | E6 | SRCR | Dutch Korean |
Severe | Weegerink et al., 2011 |
| c.607C>T | p.Gln203X | E6 | SRCR | Japanese | Severe | Miyagawa et al., 2013 |
| c.646C>T | p.Arg216Cys | E8 | SRCR | German | Mild | Elbracht et al., 2007 |
| c.647G>T | p.Arg216Leu | E8 | SRCR | Turkish | Severe | Wattenhofer et al., 2005 |
| c.726C>G | p.Cys242Trp | E8 | SRCR | Pakistani | Severe | Shafique et al., 2014 |
| c.743C>T | p.Thr248Met | E8 | SRCR | Korean | Mild | Chung et al., 2014 |
| c.753G>C | p.Trp251Cys | E8 | SRCR | Tunisian | Severe | Masmoudi et al., 2001 |
| c.767C>T | p.Arg256Val | E8 | SRCR | Pakistani | N/A | Lee et al., 2012 |
| c.782+8insT | Intron8 | SRCR | Newfoundlander | Severe | Ahmed et al., 2004 | |
| c.988delA | p.Glu330fs | E10 | Serine protease | Pakistani | Severe | Walsh et al., 2005 |
| c.1019C>G | p.Thr340Arg | E10 | Serine protease | Italian | Severe | Vozzi et al., 2014 |
| c.1159G>A | p.Ala387Thr | E11 | Serine protease | Japanese | Mild | Miyagawa et al., 2013 |
| c.1180_1187del8ins68 | E11 | Serine protease | Palestinian | Severe | Scott et al., 2001 | |
| c.1192C>T | p.Gln398X | E12 | Serine protease | Turkish | Severe | Wattenhofer et al., 2005 |
| c.1211C>T | p.Pro404Leu | E12 | Serine protease | Tunisian | Severe | Wattenhofer et al., 2005 Masmoudi et al., 2001 |
| c.1219T>C | p.Cys407Arg | E12 | Serine protease | Pakistani | Severe | Ahmed et al., 2004 Ben-Yosef et al., 2001 Lee et al., 2012 |
| c.1273T>C | p.Cys425Arg | E12 | Serine protease | Pakistani | N/A | Lee et al., 2012 |
| c.1276G>A | p.Ala426Thr | E12 | Serine protease | Dutch | Mild | Weegerink et al., 2011 |
| c.1291C>T | p.Pro431Ser | E12 | Serine protease | Italian | Severe | Vozzi et al., 2014 |
N/A: not available.