Type II deficiency: Pleiotropic effects

Nucleotide position, Mutation

Codon, Amino acid change

Variant; Unique Identifier

A%

F%

Comments

Ref

CpG

M/S

Mut. Type

13323T>G

F402C

Rosny; 1

70

52

(76, 77)

N

S

MM

13323T>C

F402S

Torino; 2

69

46

gains BsaJ I and Sty I sites

(76, 77)

N

S

MM

13324C>A

F402L

Maisons Laffitte; 3

73

56

gains Dra I and Mse I sites

(77)

N

M (2)

MM

13324C>A

"

unnamed; 4

73

62/41

"

(78)

13328G>A

A404T

Oslo; 5

48

50

loses Hae III and Hae I sites - of little diagnostic value as another site only 5bp away

(77, 79)

N

M (3)

MM

13328G>A

"

Paris 3; 6

72

48

"

(77)

13328G>A

"

unnamed; 7

100

50/65

"

(11)

13333C>G

N405K

La Rochelle; 8

73

55

(Also V-3E)

gains Mnl I site

(77)

N

M (2)

MM

13333C>G

"

1 family; 9

32/57

"

(98)

New

13334A>G

R406G

unnamed; 10

78

32

gains Sau 96 I site, loses Hae I and Stu I sites

(96)

N

S

MM

13335G>T

R406M

Kyoto; 11

Described as type I deficiency

loses Stu I site and gains Nsp I/NspC I and Nsp7524 sites

(80)

N

S

MM

13337C>A

P407T

Budapest 5; 12

100

70

(Also Protein C deficiency)

loses Stu I, Hae I and Hae III sites - last 2 of little diagnostic value as another site only 5bp away

(77)

N

M (2)

MM

New

13337C>A

"

unnamed; 13

86

72

"

(96)

13338C>T

P407L

Utah; 14

50

50

loses Stu I, Hae I and Hae III sites - last 2 of little diagnostic value as another site only 5bp away

(81)

N

M (2)

MM

New

13338C>T

"

unnamed; 15

"

(95)

New

13392G>C

R425T

unnamed; 16

37

42/45

gains Bsp 1286 I site

(96)

N

M (2)

MM

New

13392G>C

"

unnamed; 17

50-56

50-59

"

(103)

13404C>T

P429L

Budapest; 18

75

20

Homozygous, but 2 plasma forms

(82)

N

S

MM