| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.749C>T | p.Ser250Phe | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCC | Ser | TTC | Phe | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Protease domain | Yes, coding strand | No |
| Mutation(s) on the other allele: c.IVS5-1G>A (c.572-1G>A) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): #Bsa I, Sac II |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.01 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CH11_001 | Proband | Male | CHINA |
| Phenotypic group | FVII:c level |
| mild | 2_<5 |
| c.-323insCCTATATCCT genotype | p.Arg413Gln genotype |
| 0/0 | RR |
| Reference ID | PubMed ID | Reference |
| 74 | 21372693 | Jiang M, Wang Z, Yu Z, Bai X, Su J, Cao L, Zhang W, Ruan C. A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency. Blood Coagul Fibrinolysis. 2011 Jun;22(4):264-70. |