Table 3. Discovered STAT3 somatic mutations in 94 multiple sclerosis (MS) patients and 99 controls (Ctrl).
| Mutation | Exon | COSMIC/OMIM | CADD score | MS (n) | Ctrl (n) |
|---|---|---|---|---|---|
| S590R | 20 | - | 26,1 | 1 | 0 |
| K591X | 20 | - | 33 | 1 | 0 |
| E592* | 20 | - | 44 | 1 | 1 |
| K601T | 20 | - | 24,8 | 1 | 0 |
| T605X | 20 | - | 31 | 2 | 0 |
| F606X | 20 | - | 33 | 1 | 0 |
| S614R | 20 | COSV52888203 | 29,4 | 9 | 5 |
| E616* | 20 | - | 43 | 0 | 1 |
| E616del | 20 | COSV52882850 | 22,9 | 1 | 0 |
| G617G | 20 | - | 12 | 1 | 0 |
| G618R | 20 | COSV52882950 | 32 | 1 | 4 |
| P639Q | 21 | - | 26,4 | 1 | 0 |
| Y640F | 21 | COSV52882807 | 23,8 | 3 | 1 |
| Q644H | 21 | - | 23,7 | 1 | 0 |
| N646K | 21 | OMIM #615952 | 23,3 | 1 | 0 |
| N647I | 21 | COSV52882818 | 23,7 | 0 | 1 |
| Y657dup | 21 | COSV52891910 | 21,9 | 1 | 1 |
| K658N | 21 | COSV52886038 OMIM #615952 | 26,4 | 1 | 2 |
| K658M | 21 | COSM1166797 | 28,8 | 0 | 1 |
| K658R | 21 | COSV52886492 | 25 | 1 | 1 |
| I659L | 21 | COSV52891525 | 24,4 | 2 | 0 |
| D661Y | 21 | COSV52882933 | 25,3 | 4 | 5 |
| D661V | 21 | COSV52886283 | 24,4 | 1 | 3 |
| L666V | 21 | - | 25,3 | 1 | 0 |
| V671L | 21 | - | 24 | 1 | 0 |
| E690* | 21 | - | 38 | 1 | 0 |
| Total | 38 | 26 |
*denotes stop mutation; COSMIC, Catalogue Of Somatic Mutations In Cancer; OMIM, Online Mendelian Inheritance in Man; CADD, Combined Annotation Dependent Depletion. Based on CADD’s recommendation a CADD score >20 can be considered predictably deleterious (https://cadd.gs.washington.edu/info). Based on Ensembl’s recommendation CADD scores >30 are likely deleterious. Variants with scores >30 are predicted to be the 0.1% most deleterious possible substitutions in the human genome (https://www.ensembl.org/info/genome/variation/prediction/protein_function.html).