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Literature summary for 3.4.21.B60 extracted from

  • David, A.; Parkinson, N.; Peacock, T.; Pairo-Castineira, E.; Khanna, T.; Cobat, A.; Tenesa, A.; Sancho-Shimizu, V.; Casanova, J.; Abel, L.; Barclay, W.; Baillie, J.; Sternberg, M.
    A common TMPRSS2 variant has a protective effect against severe COVID-19 (2022), Curr. Res. Transl. Med., 70, 103333 .
    View publication on PubMedView publication on EuropePMC
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Protein Variants

Protein Variants Comment Organism
R255Q mutant is unable to autocleave Homo sapiens
R255Q/V160M mutant does not autocleave and shows a significantly reduced ability to promote SARS-CoV-2 spike protein-expressing pseudovirus Homo sapiens
S441A inactive Homo sapiens
V160M naturally-occurring TMPRSS2 genetic variant, non-synonymous variant predicted to be damaging. V160M is associated with a reduced likelihood of developing severe COVID-19. This association is stronger in homozygous individuals when compared to the general population. In vitro the mutation affects the catalytic activity of TMPRSS2, the mutant is less able to support SARS-CoV-2 spike-mediated entry into cells. Mutant protein is present in significantly higher proportion of full-length (55 kDa), and a significantly lower proportion of fully cleaved protein Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens O15393
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-

Posttranslational Modification

Posttranslational Modification Comment Organism
proteolytic modification full-length enzyme of 55000 Da is autocleaved at residue R255 to an active fragment of 22000 Da Homo sapiens

Subunits

Subunits Comment Organism
? x * 55000, full length protein, x * 20000, fully autocleaved form, SDS-PAGE Homo sapiens