Mutations and predicted effects on CYP4V2 structure and function
| Patient No | DNA | Protein | Polyphen | SIFT | Mass | Condel | Source |
|---|---|---|---|---|---|---|---|
| P1 | c.1393A>G | p.R465G | 3.411 possibly damaging | 0 damaging | 4.4 | 1.044 deleterious | Novel |
| P1 | c.364T>C | p.S122P | 0.22 benign | 0.21 tolerated | 0.185 | 0.436 neutral | Novel |
| P1.1 | c.1393A>G | p.R465G | 3.411 possibly damaging | 0 damaging | 4.4 | 1.044 deleterious | Novel |
| P1.1 | c.364T>C | p.S122P | 0.22 benign | 0.21 tolerated | 0.185 | 0.436 neutral | |
| P1.2 | c.1393A>G | p.R465G | 3.411 possibly damaging | 0 damaging | 4.4 | 1.044 deleterious | Novel |
| P1.2 | c.364T>C | p.S122P | 0.22 benign | 0.21 tolerated | 0.185 | 0.436 neutral | |
| P2 | c.1169G>A | p.R390H | 3.052 possibly damaging | 0 damaging | NA | 0.654 deleterious | Xiao et al12 |
| P2 | c.694C>T | p.R232X | Novel | ||||
| P3 | c.1393A>G | p.R465G | 3.411 possibly damaging | 0 damaging | 4.4 | 1.044 deleterious | Novel |
| P3 | c.277T>C | p.W93R | 2.584 possibly damaging | 0.02 damaging | 2.84 | 0.905 deleterious | Novel |
| P3.1 | c.1393A>G | p.R465G | 3.411 possibly damaging | 0 damaging | 4.4 | 1.044 deleterious | Novel |
| P3.1 | c.277T>C | p.W93R | 2.584 possibly damaging | 0 damaging | 2.84 | 0.905 deleterious | Novel |
| P4 | c.1393A>G | p.R465G | 3.411 possibly damaging | 0 damaging | 4.4 | 1.044 deleterious | Novel |
| P4 | c.332T>C | p.I111T | 2.486 possibly damaging | 0 damaging | 3.75 | 0.9643 deleterious | Li et al,24 Rossi et al11 |
| P4 | c.775A>C | p.K259Q* | 0.422 benign | 0.18 tolerated | |||
| P4.1 | c.1393A>G | p.R465G | 3.411 possibly damaging | 0 damaging | 4.4 | 1.044 deleterious | Novel |
| P4.1 | c.332T>C | p.I111T | 2.486 possibly damaging | 0 damaging | 3.75 | 0.964 deleterious | Li et al,24 Rossi et al11 |
| P4.1 | c.775A>C | p.K259Q* | 0.422 benign | 0.18 tolerated | |||
| P5 | c.1328G>A | p.R443Q | 1.911 probably damaging | 0 damaging | 4.365 | 1.037 deleterious | Novel |
| P5 | c.724delG | p.D242Ifs35 | Novel | ||||
| P6 | c.694C>T | p.R232X | Novel | ||||
| P6 | c.76G>A | p.G26S | 0.064 benign | 0.41 tolerated | 0.525 | 0.193 neutral | Novel |
| P7 | c.1393A>G | p.R465G | 3.411 possibly damaging | 0 damaging | 4.4 | 1.044 deleterious | Novel |
| P8 | c.694C>T | p.R232X | Novel | ||||
| P8 | c.694C>T | p.R232X | Novel | ||||
| P8.1 | c.694C>T p.R232X | p.R232X | Novel | ||||
| P8.1 | c.694C>T | p.R232X | Novel | ||||
| P9 | c.332T>C | p.I111T | 2.486 possibly damaging | 0 damaging | 3.75 | 0.9643 deleterious | Li et al,24 Rossi et al11 |
| P9 | c.332T>C | p.I111T | 2.486 possibly damaging | 0 damaging | 3.75 | 0.9643 deleterious | Li et al,24 Rossi et al11 |
| P10 | c.332T>C | p.I111T | 2.486 possibly damaging | 0 damaging | 3.75 | 0.9643 deleterious | Li et al,24 Rossi et al11 |
| P10 | c.332T>C | p.I111T | 2.486 possibly damaging | 0 damaging | 3.75 | 0.9643 deleterious | Li et al,24 Rossi et al11 |