Type II deficiency: Heparin binding defects

Nucleotide position, Mutation

Codon, Amino acid change

Variant; Unique Identifier

A%

F%

Comments

additional data in brackets

Ref

CpG

M/S

Mut. Type

2484T>A

I7N

Rouen III; 1

Additional carbohydrate

(57)

N

M (3)

MM

2484T>A

"

2 unnamed families; 2, 3

Also V-3E

(98)

2534C>T

R24C

Rouen IV; 4

105

56

loses BsiY I site

(58)

Y

S

MM

2586C>T

P41L

Basel; 5

104

60

loses Bcn I, Nci I, Msp I and Hpa II sites and gains BstN I, EcoR II and Gsu I sites

(59)

Y

M (18)

MM

2586C>T

"

Clichy I; 6

110

68

"

(41)

2586C>T

"

Clichy 2; 7

"

(41)

2586C>T

"

Franconville; 8

"

(41)

2586C>T

"

2 unnamed families; 9, 10

"

(101)

2586C>T

"

4 unnamed families; 11-13

"

(38)

2586C>T

"

Dublin 2; 14

"

(60)

2586C>T

"

unnamed; 15

"

(98)

2586C>T

"

unnamed; 16

"

(Also V-3E)

(98)

New

2586C>T

"

unnamed; 17

100

47

"

(61)

New

2586C>T

"

unnamed; 18

90

52

"

(98)

New

2586C>T

"

2 unnamed families; 19. 20

100

70-75

"

(96)

New

2586C>T

"

unnamed; 21

115

69

"

(97)

2603C>T

R47C

Toyama; 22

100

26

(Homozygous)

gains Age I site

(62)

Y

M (19)

MM

2603C>T

"

Tours; 23

"

(63)

2603C>T

"

Alger; 24

Homozygous

"

(64)

2603C>T

"

Paris 1; 25

127

54

"

(41)

2603C>T

"

Paris 2; 26

100

60

"

(41)

2603C>T

"

3 unnamed families; 27-29

"

(101)

2603C>T

"

Padua 2; 30

100

60

"

(65)

2603C>T

"

unnamed; 31

"

(38)

2603C>T

"

Barcelona 2; 32

100

60

"

(66)

2603C>T

"

Amiens; 33

"

(67)

2603C>T

"

Kumamoto; 34

100

28

(Homozygous)

"

(68)

2603C>T

"

unnamed; 35

"

(98)

2603C>T

"

2 unnamed families; 36, 37

90

60

"

(95)

New

2603C>T

"

Omura; 38

109

16

(Homozygous)

"

(100)

New

2603C>T

"

Sasebo; 39

140

70

"

(100)

New

2603C>T

"

unnamed; 40

106

45

"

(97)

2603C>A

R47S

Rouen II; 41

102

64

loses Cfr 10 I site

(69)

N

S

MM

2604G>A

R47H

Rouen I; 42

111

55

gains Nsp I/NspC I, Nsp7524 I and Nla III sites

(70)

Y

M (15)

MM

2604G>A

"

Padua I; 43

95

73

"

(71)

2604G>A

"

Bligny; 44

100

60

"

(72)

2604G>A

"

2 unnamed families; 45, 46

"

(38)

2604G>A

"

3 unnamed families; 47-49

"

(101)

2604G>A

"

unnamed; 50

"

(25)

2604G>A

"

3 unnamed families; 51-53

"

(98)

2604G>A

"

unnamed; 54

115

75

"

(95)

2604G>A

"

Budapest 2; 55

"

(95)

New

2604G>A

"

unnamed; 56

"

(95)

2759C>T

L99F

Budapest 3; 57

77

(Homozygous)

loses Mnl I and Gsu I sites

(73)

N

M (5)

MM

2759C>T

"

Budapest 7; 58

70

70

"

(95)

2759C>T

"

unnamed; 59

54-75

19-54

(Homozygous)

"

(95)

2759C>T

"

unnamed; 60

71

55

"

(95)

New

2759C>T

"

unnamed; 61

55

56

"

(96)

New

2759C>G

L99V

Southport; 62

56

68

Variant detected by CIE

loses Mnl I and Gsu I sites, gains Tth111 I site

(61)

N

S

MM

New

5342T>C

S116P

Nagasaki; 63

110

55

(74)

N

S

MM

New

5349A>C

Q118P

Vienna; 64

104

52

loses Bcl I and BstY I sites and gains Alw I site - last of little diagnostic value as another site only 5bp away

(61)

N

S

MM

5382G>A

R129Q

Geneva; 65

100

50

loses Hinf I and Ple I sites

(75)

Y

M (4)

MM

5382G>A

"

unnamed; 66

"

(101)

5382G>A

"

unnamed; 67

"

(98)

5382G>A

"

unnamed; 68

169

75

"

(95)

7420G>A

E237K

Truro; 69

gains Mbo II and Xmn I

(102)

N

S

MM