| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.761G>A | p.Cys254Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Protease domain | No | No |
| Mutation(s) on the other allele: c.1061C>T (p.Ala354Val); c.1388delC (p.Pro464HisfsX28) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.06 (non pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GR08_072 | Proband | Male | GERMANY |
| Phenotypic group | FVII:c level |
| severe | 0_<2 |
| c.-323insCCTATATCCT genotype | p.Arg413Gln genotype |
| unknown | unknown |
| Reference ID | PubMed ID | Reference |
| 69 | 18976247 | Herrmann FH, Wulff K, Auerswald G, Schulman S, Astermark J, Batorova A, Kreuz W, Pollmann H, Ruiz-Saez A, De Bosch N, Salazar-Sanchez L; Greifswald Factor FVII Deficiency Study Group. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. Haemophilia. 2009 Jan;15(1):267-80. |