| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.583T>C | p.Cys195Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| C195 | No | No |
| Mutation(s) on the other allele: c.479A>G (p.Gln160Arg) |
| At the mRNA level | On restriction map |
| New restriction site(s): BsaA I, Mae II, Pml I Lost restriction site(s): Nla III |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.54 (non pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UK00_017 | Proband | Unknown | U.K. |
| Phenotypic group | FVII:c level |
| severe | 0_<2 |
| c.-323insCCTATATCCT genotype | p.Arg413Gln genotype |
| unknown | unknown |
| Reference ID | PubMed ID | Reference |
| 49 | 11129332 | Millar DS, Kemball-Cook G, McVey JH, Tuddenham EG, Mumford AD, Attock GB, Reverter JC, Lanir N, Parapia LA, Reynaud J, Meili E, von Felton A, Martinowitz U, Prangnell DR, Krawczak M, Cooper DN. Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. Hum Genet. 2000 Oct;107(4):327-42. |