Mutations in recessively inherited coagulation disorders
. | Mutation type . | . | . | . | . | Total no. of mutations . | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| Deficient factor and gene . | Missense . | Nonsense . | Insertion/deletion . | Splicing . | Gross deletions . | . | ||||
| Fibrinogen* | ||||||||||
| FGA | 0 | 7 | 7 | 3 | 3 | 20 | ||||
| FGB | 4 | 2 | 0 | 2 | 0 | 8 | ||||
| FGG | 0 | 2 | 1 | 3 | 0 | 6 | ||||
| Prothrombin | ||||||||||
| F2 | 27 | 2 | 4 | 1 | 0 | 34 | ||||
| V | ||||||||||
| F5 | 9 | 6 | 9 | 2 | 0 | 26 | ||||
| VII | ||||||||||
| F7 | 84 | 6 | 8 | 17 | 0 | 124† | ||||
| X | ||||||||||
| F10 | 55 | 0 | 4 | 3 | 3 | 65 | ||||
| XI | ||||||||||
| F11 | 25 | 11 | 7 | 7 | 0 | 50 | ||||
| XII | ||||||||||
| F13A | 26 | 6 | 10 | 8 | 1 | 51 | ||||
| F13B | 1 | 0 | 2 | 0 | 0 | 3 | ||||
| V + VIII | ||||||||||
| LMAN1 | 1 | 3 | 10 | 4 | 0 | 18 | ||||
| MCDD2 | 2 | 0 | 3 | 2 | 0 | 7 | ||||
| Vitamin K dependent | ||||||||||
| GGCX | 2 | 0 | 0 | 0 | 0 | 2 | ||||
| VKORC1 | 1 | 0 | 0 | 0 | 0 | 1 | ||||
. | Mutation type . | . | . | . | . | Total no. of mutations . | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| Deficient factor and gene . | Missense . | Nonsense . | Insertion/deletion . | Splicing . | Gross deletions . | . | ||||
| Fibrinogen* | ||||||||||
| FGA | 0 | 7 | 7 | 3 | 3 | 20 | ||||
| FGB | 4 | 2 | 0 | 2 | 0 | 8 | ||||
| FGG | 0 | 2 | 1 | 3 | 0 | 6 | ||||
| Prothrombin | ||||||||||
| F2 | 27 | 2 | 4 | 1 | 0 | 34 | ||||
| V | ||||||||||
| F5 | 9 | 6 | 9 | 2 | 0 | 26 | ||||
| VII | ||||||||||
| F7 | 84 | 6 | 8 | 17 | 0 | 124† | ||||
| X | ||||||||||
| F10 | 55 | 0 | 4 | 3 | 3 | 65 | ||||
| XI | ||||||||||
| F11 | 25 | 11 | 7 | 7 | 0 | 50 | ||||
| XII | ||||||||||
| F13A | 26 | 6 | 10 | 8 | 1 | 51 | ||||
| F13B | 1 | 0 | 2 | 0 | 0 | 3 | ||||
| V + VIII | ||||||||||
| LMAN1 | 1 | 3 | 10 | 4 | 0 | 18 | ||||
| MCDD2 | 2 | 0 | 3 | 2 | 0 | 7 | ||||
| Vitamin K dependent | ||||||||||
| GGCX | 2 | 0 | 0 | 0 | 0 | 2 | ||||
| VKORC1 | 1 | 0 | 0 | 0 | 0 | 1 | ||||
The list is updated to March 2004; only fully published mutations have been counted.
Only mutations identified in afibrinogenemic or severe hypofibrinogenemic patients were considered.
The total number of FVII mutations includes also 6 additional mutations located in the 5′UTR region of the FVII gene.