Table 1 Missense variants in TMPRSS3 gene within the study sample if Iranome project
variant | protein effect | number of heterozygotes | CADD score | SIFT pred | Polyphen2 HVAR pred | MutationTaster pred | MutationAssessor pred | FATHMM pred | FATHMM MKL coding pred | N of 6 damaging prediction | Population with the most frequency of allele | Population with the least frequency of allele |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
c.1009 A > G | p.Ile337Val | 234 | 0.451 | Tolerated | Benign | Tolerated | Predicted non-functional (neutral) | Tolerated | Tolerated | 0 | Turkmen( 0.285) | Persian Gulf Islander (0.12) |
c.983G > A | p.Gly328Asp | 1 | 32 | Damaging | Probably damaging | Damaging | Predicted functional (high) | Damaging | Damaging | 6 | Persian( 0.005) | Turkmen (0) |
c.643G > A | p.Asp215Asn | 2 | 34 | Damaging | Possibly damaging | Damaging | Predicted functional (medium) | Tolerated | Damaging | 5 | Baloch( 0.01) | Turkmen (0) |
c.583G > A | p.Gly195Ser | 147 | 14.23 | Tolerated | Benign | Tolerated | Predicted non-functional (neutral) | Tolerated | Tolerated | 0 | Arab( 0.14) | Turkmen ( 0.075) |
c.568 C > T | p.Arg190Cys | 2 | 34 | Damaging | Probably damaging | Damaging | Predicted functional (medium) | Damaging | Damaging | 6 | Lur( 0.005) | Persian Gulf Islander (0) |
c.268G > A | p.Ala90Thr | 10 | 22.9 | Tolerated | Possibly damaging | Damaging | Predicted functional (medium) | Damaging | Damaging | 5 | Persian( 0.015) | Lur (0) |
c.409G > A | p.Val137Ile | 42 | 13.72 | Tolerated | Benign | Tolerated | Predicted non-functional (low) | Damaging | Tolerated | 1 | Turkmen(0.045) | Persian Gulf Islander ( 0.015) |
c.175T > A | p.Ser59Thr | 1 | 0.688 | tolerated | Probably damaging | Tolerated | N/A | Tolerated | Tolerated |  | Turkmen(0.005) | Persian Gulf Islander (0) |
c.122G > C | p.Cys41Ser | 10 | 7.955 | deleterious | benign | Tolerated | N/A | N/A | Tolerated |  | Baloch( 0.03) | Persian Gulf Islander (0) |
c.79T > G | p.Ser27Ala | 1 | 1.799 | tolerated | benign | Tolerated | N/A | Damaging | Tolerated |  | Azeri( 0.005) | Turkmen (0) |
c.71G > A | p.Arg24Gln | 11 | 6.466 | deleterious | benign | Tolerated | N/A | N/A | Tolerated |  | Arab( 0.015) | Turkmen (0) |
c.55G > A | p.Gly19Arg | 2 | 7.448 | deleterious | Probably damaging | Tolerated | N/A | N/A | Tolerated |  | Arab( 0.01) | Turkmen (0) |