Table 1.
STAT3 variants identified
| STAT3 gene | Mutation | Protein domain | No. patients | STAT3 activity (% of WT) according to | |
|---|---|---|---|---|---|
| Asano et al. 2021 | |||||
| exon 10 | c.1025 G > A | G342D | DNA-binding | 1 | < 25% |
| intron 12 | c.1139 + 1G > T | – | DNA-binding | 1 | 0% |
| exon 13 | c.1144 C > T | R382W | DNA-binding | 5 | 0% |
| exon 13 | c.1145 G > A | R382Q | DNA-binding | 1 | 0% |
| exon 15 | c.1294 G > C | V432L | DNA-binding | 1 | 0% |
| exon 16 | c.1387_1389delGTG | V463del | DNA-binding | 1 | 0 |
| exon 16 | c.1393 T > G | S465A | DNA-binding | 3 | 0 |
| exon 16 | c.1397 A > G | N466S | DNA-binding | 2 | 75–100% |
| exon 19 | c.1699 A > G | N567D | LINKER | 1 | < 25% |
| exon 20 | c.1771 A > G | K591E | SH2 | 1 | < 25% |
| exon 21 | c.1909 G > A | V637M | SH2 | 6 | < 25% |
| exon 21 | c.1910 T > C | V637A | SH2 | 1 | < 25% |
| exon 21 | c.1916 C > T | P639L | SH2 | 2 | < 25% |
| exon 21 | c.1979 T > C | M660A | SH2 | 1 | – |
| exon 22 | c.2129 T > C | F710C | Transaction | 1 | 0 |
The STAT3 variants identified in this cohort were previously evaluated by Asano et al. [ref. 28]. They showed that 95.3% of STAT3 variants encoded STAT3 proteins with little or no activity