Table 1.
Grouping of MC4R Pathway Variants
| Category | Gene Source | POMC | PSCK1 | LEPR | Total |
|---|---|---|---|---|---|
| Group 1 | Literature | 30 | 31 | 22 | 83 |
| Novel (nonsense, splice site, frameshift) | 20 | 24 | 39 | 83 | |
| Group 2 | Computationally predicted high-impact missense | 85 | 176 | 160 | 421 |
| Total | 135 | 231 | 221 | 587 |