Table 1.
Frameshift mutation frequencies in NMD-related genes.
| Hugo ID | Role in NMD | cMNR | Position a | Mutated |
|---|---|---|---|---|
| SMG1 | UPF1 kinase | T7 | 1339 | 2/18 (11%) |
| T7 | 9018 | 0/19 | ||
| A7 | 10694 | 0/19 | ||
| SMG5 | Promotes UPF1 dephosphorylation | C7 | 12 | 0/19 |
| SMG7 | Promotes UPF1 dephosphorylation | A9 | 2273 | 3/19 (15%) |
| UPF2 | Binds UPF3A/B, recruits UPF1 | A7 | 355 | 0/16 |
| UPF3A | Binds EJC, recruits UPF2 | A7 | 486 b | 0/19 |
| A9 | 790 b | 18/23 (78%) | ||
| UPF3B | Binds EJC, recruits UPF2 | T7 | 244 | 0/19 |
a Positon of the first base in the repeat within the coding sequence, based on the ENSEMBL transcripts ENST00000276201 (SMG1), OTTHUMT00000046308 (SMG5), ENST00000367537 (SMG7), ENST00000262803 (UPF2), ENST00000375299 (UPF3A) and ENST00000276201 (UPF3B); b UPF3A splice variant represented by ENSEMBL transcript ENST00000351487 lacks the A7 repeat while the A9 repeat starts at coding base pair 691.