| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.479A>G | p.Gln160Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | CGG | Arg | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF#2 | Yes, non coding strand | No |
| Mutation(s) on the other allele: c.583T>C (p.Cys195Arg) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Sca I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.9 | 0.46 (non pathogenous) | 47 (Polymorphism) |
| 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. |