| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.641T>G | p.Val214Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTG | Val | GGG | Gly | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Protease domain | No | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Xcm I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.44 (non pathogenous) | 76 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| IT02_001 | Proband | Male |
| Phenotypic group | FVII:c level |
| mild | 0_<2 |
| c.-323insCCTATATCCT genotype | p.Arg413Gln genotype |
| unknown | unknown |
| Reference ID | PubMed ID | Reference |
| 7 | 12358603 | Toso R, Bernardi F, Tidd T, Pinotti M, Camire RM, Marchetti G, High KA, Pollak ES. Factor VII mutant V154G models a zymogen-like form of factor VIIa. Biochem J. 2003 Feb 1;369(Pt 3):563-71. |