MED12 mutations with three different pathogenicity scores
| ID | Chr | POS | REF | ALT | Mutation | HGVS.c | HGVS.p | PolyPhen | SIFT | CADD |
|---|---|---|---|---|---|---|---|---|---|---|
| 112-084 | Chr X | 70338672 | A | G | Missense | c.68A>G | p.Asp23Gly | 0.904 | 0 | 29 |
| 300-013 | Chr X | 70342408 | G | T | Missense | c.1299G>T | p.Gln433His | 0.994 | 0.006 | 19.6 |
| 300-074 | Chr X | 70344018 | G | A | Missense | c.1754G>A | p.Arg585Gln | 0.027 | 0.585 | 23 |
| 300-298 | Chr X | 70345918 | C | T | Missense | c.2455C>T | p.Arg819Trp | 0.994 | 0.001 | 32 |
| 300-300 | Chr X | 70349536 | C | T | Missense | c.3698C>T | p.Ala1233Val | 0.982 | 0.052 | 25.9 |
| 300-074 | Chr X | 70349689 | G | T | Missense | c.3851G>T | p.Arg1284Leu | 0.582 | 0.005 | 25.1 |
| 300-090 | Chr X | 70356162 | C | T | Missense | c.5057C>T | p.Ser1686Leu | 1 | 0.022 | 33 |
| 112-084 | Chr X | 70356420 | C | A | Missense | c.5315C>A | p.Pro1772Gln | 0.228 | 0.05 | 23.9 |
| 300-004 | Chr X | 70357181 | G | A | Missense | c.5696G>A | p.Arg1899Gln | 0.96 | 0.308 | 23.1 |
| 300-211 | Chr X | 70344030 | A | T | Missense | c.1766A>T | p.Glu589Val | 0.996 | 0.005 | 29.5 |
| 197-019 | Chr X | 70360698 | G | GATC | Insertion | c.6268_6270dupATC | p.Ile2090dup | NA | NA | 14.6 |
| 300-004 | Chr X | 70361090 | AACAGCA | A | Deletion | c.6294_6299delACAGCA | p.Gln2098_Gln2099del | NA | NA | 17.1 |
| CRC-161 | Chr X | 70339253 | G | A | Missense | c.130G>A | p.Gly44Ser | 1 | 0 | 27.3 |
| CRC-181 | Chr X | 70339233 | C | T | Missense | c.110C>T | p.Thr37Met | 1 | 0.001 | 20.5 |
| CRC-302 | Chr X | 70361159 | A | ACCAGCAGCAACA | Insertion | c.6369_6380dupCCAGCAGCAACA | p.His2123_Gln2126dup | NA | NA | 0.8 |
Most of the mutations were predicted to be pathogenic by at least two prediction algorithms.
A SIFT score of ≤0.05 indicates the amino acid substitution is pathogenic (damaging), whereas a score of ≥0.05 is predicted to be tolerant. PolyPhen predicts results of nsSNPs as possibly damaging and probably damaging (PSIC >0.5) or benign (PSIC <0.5). According to CADD classification, variants with a C-score of 10 or greater (≥C10) are probable functional variants, variants with a C-score of 20 or greater (≥C20) are most deleterious and variants with a C-score of 30 or greater (≥C30) are lethal. Pathogenic mutation scores are highlighted in bold.
ALT, altered; CADD, combined annotation dependent depletion; Chr, chromosome; CRC, colorectal cancer; NA, not applicable; PSIC, position-specific independent counts; POS, position; REF, reference; SIFT, sorting intolerant from tolerant.