Type II deficiency: Reactive site defects

Nucleotide position, Mutation

Codon, Amino acid change

Variant; Unique Identifier

A%

F%

Comments

additional data in brackets

Ref

CpG

S/M

Mut.

type

6460A>G

N187D

Rouen VI; 1

160

51/65

Increased heparin affinity

Forms polymers

(35)

N

M (3)

MM

6460A>G

"

unnamed; 2

98

55

(20)

6460A>G

"

unnamed;3

77

62

(96)

New

7464G>A

M251I

unnamed;4

73

52

(7)

N

S

MM

7562T>A

I284N

Haslar;5

69

64/82

(98)

N

S

MM

New

7615G>A

E302K

unnamed; 6

88

70

loses Mnl I site

(98)

N

S

MM

13262G>A

A382T

Hamilton; 7

100

50

(Transformed into substrate)

loses Bbv I site and Fnv4H I site

(36, 37)

Y

M (4)

MM

13262G>A

"

unnamed; 8

"

(38)

13262G>A

"

Glasgow II; 9

100

56

(Transformed into substrate)

(39)

13262G>A

"

unnamed; 10

108

28/71

"

(98)

13268G>C

A384P

Charleville; 11

100

60

(Transformed into substrate)

loses Bbv I site, Fnv4H I site, BspW I site

(40, 41)

N

M (6)

MM

13268G>C

Cambridge I; 12

95

54

"

(42)

13268G>C

"

Vicenza; 13

105

62

(Transformed into substrate)

"

(40)

13268G>C

"

unnamed; 14

"

(38)

13268G>C

"

Sudbury; 15

119

56

"

(43)

New

13268G>C

"

unnamed; 16

100

60

"

(95)

13268G>T

A384S

Cambridge II; 17

103

75

loses Bbv I site, Fnv4H I site, BspW I site and Pvu II site

(44)

N

M (20)

MM

13268G>T

"

unnamed; 18

"

(98)

13268G>T

"

unnamed; 19

113

59

"

(98)

13268G>T

"

unnamed; 20

108

"

(98)

13268G>T

"

13 unnamed cases; 21-33

94

95/76

"

(all but 3 asymptomatic)

(98)

13268G>T

"

unnamed; 34

100

74

"

(95)

New

13268G>T

"

unnamed; 35

90

75

"

(96)

New

13268G>T

"

unnamed; 36

90

74

"

(98)

13293G>A

G392D

Stockholm; 37

loses Eae I site,Gdi II site, Hae III site and BceF I site

(45)

Y

S

MM

13295C>T

R393C

Northwick Park; 38

162

65

complex with albumin

loses Eae I site,Gdi II site, Hae III site and BceF I site

(46, 47)

Y

M (3)

MM

13295C>T

"

Milano I; 39

"

(48)

13295C>T

"

Frankfurt I; 40

100

60

"

(49, 50)

13296G>A

R393H

Glasgow; 41

87

43

(Increased heparin affinity)

loses Gdi II site and BceF I sites and gains Hae I and Msc I sites

(47)

Y

M (7)

MM

13296G>A

"

Sheffield; 42

75

54

"

(51)

13296G>A

"

Chicago; 43

96

37

(Increased heparin affinity)

"

(52)

13296G>A

"

Avranches; 44

100

59

"

(41)

13296G>A

"

unnamed; 45

"

(98)

New

13296G>A

"

unnamed; 46

93

56

"

(96)

New

13296G>A

"

Kumamoto II; 47

92

61

(Increased heparin affinity)

"

(100)

13296G>C

R393P

Pescara; 48

100

62

Increased heparin affinity

loses Eae I site, Gdi II site, BceF I site and gains Sau96 I site

(53, 54)

N

S

MM

13299C>T

S394L

Denver,49

92

54

increased clearance ?

(55)

Y

M (7)

MM

13299C>T

"

Milano 2; 50

(56)

13299C>T

"

unnamed; 51

123

68

(11)

New

13299C>T

"

4 unnamed cases; 52-55

100

66-71

(7)