Summary of Mutations causing rare bleeding disorders

 Deficiency

 Gene

 Total
Number

 

 Number of mutations by type

 

 

 

 
Promoter

 

 
Missense

 
Nonsense

 
Splicing

 
Insertion /Deletion

 
Gross
deletion

Prothrombin

F2

44

 

 35

 2

 2

 5

  

Factor V

F5

55

 

17

10

6

22

 

Factor VII

F7

147*

7

98

9

17

15

1

Factor X

F10

87

 

70

 

7

8

2

Factor XI

F11

120

1

76

20

12

9

2

Factor XIII

F13A

77

 

37

7

13

19

1

Factor XIII

F13B

4

 

1

 

1

2

 

Combined factors
V and VIII

LMAN1

29

 

2

7

7

13

 

Combined factors
V and VIII

MCFD2

9

 

3

 

3

3

 

 

 

 

 

 

 

 

 

 

 

* Excluding 22 novel mutations (3 promotor, 13 missense, 2 nonsense, 2 splicing and 2 insertion/deletion) for which no information on the patients was provided (Mariani et al. Thromb Haemost 93:481, 2005).  These mutations are not included in the detailed Table on factor VII.