Table 1.
Previously published TMPRSS3 a mutations
| Variant b | Exon/ Intron |
Protein Domain c | Population | Reference |
|---|---|---|---|---|
| c.208delC (p.His70ThrfsX19) d | Exon 4 | LDLRA (predicted to delete SRCR, serine protease) |
Spanish, Greek, Pakistani, Newfoundlander |
6,15 |
| c.268G>A (p.Ala90Thr) e | Exon 4 | LDLRA | UK Caucasian | 16 |
| c.308A>G (p.Asp103Gly) | Exon 4 | LDLRA | Greek | 6 |
| c.323 −6G>A f | Intron 4 | LDLRA (predicted to delete part of SRCR) |
Pakistani | 17 |
| c.325C>T (p.Arg109Trp) | Exon 5 | LDLRA | Pakistani | 9 |
| c.413C>A (p.Ala138Glu) | Exon 5 | SRCR | UK Caucasian | 16 |
| c.581G>T (p.Cys194Phe) | Exon 7 | SRCR | Pakistani | 9,15 |
| c.646C>T (p.Arg216Cys) | Exon 8 | Serine protease | German | 18 |
| c.647G>T (p.Arg216Leu) | Exon 8 | Serine protease | Turkish | 8 |
| c.753G>C (p.Trp251Cys) | Exon 8 | Serine protease | Tunisian | 7 |
| c.782 +8insT g | Intron 8 | Serine protease | Newfoundlander | 15 |
| c.916G>A (p.Ala306Thr) | Exon 9 | Serine protease | German | 18 |
| c.1180_1187del8ins68 h | Exon 11 | Serine protease | Palestinian | 17 |
| c.1192C>T (p.Gln398Stop) | Exon 11 | Serine protease | Turkish | 8 |
| c.1211C>T (p. Pro404Leu) i | Exon 12 | Serine protease | Turkish, Tunisian | 7,8 |
| c.1219T>C (p.Cys407Arg) | Exon 12 | Serine protease | Pakistani | 9,15 |
NCBI Reference Sequence: NM_024022.2 (isoform a). Isoform a is the most abundantly and widely expressed isoform, including in fetal cochlea (17)
Variant names were modified to follow updated nomenclature rules. None of these variants are in 1000 Genomes.
LDLRA: low-density lipoprotein receptor A; SRCR: scavenger-receptor cysteine rich. No variant has been found in the first transmembrane domain
This variant was originally reported as 207delC (6)
This variant was found in heterozygosity in two probands but a second mutation was not found. Although the c.268G>A variant was predicted to be pathogenic and was not found in 165 controls, it is catalogued in dbSNP as rs45598239 and the variant is present in 5% of the CEU panel.
Originally reported as IVS4 −6G>A
Originally reported as IVS8 +8insT
This is the same as the Ins(βsat)+del mutation
This variant is catalogued in dbSNP as rs28939084 but no population frequency data is available