Polymorphisms/sequence variations

Nucleotide Position, Sequence

Location

Detection

Comment

Ref

(-276), 76bp dimorphism

5’ untranslated region

*

Slow 0.25, Fast 0.75

(83)

(-159), T/C

"

DGGE

T 0.96, C 0.04 ***

(95)

67G>A

"

Very low; found in deficient family and not in 78 normal alleles

(6)

2457T/A

Exon 2; -3V/E

sequencing

4 families

(60)

"

"

3 families, one also N405K

(95)

"

"

4 families, 2 also I7N, one also P41L

(98)

"

"

1 family

(96)

"

"

1 family with type I deficiency

(11)

New

2523T/C

Exon 2; 20M/T

sequencing

Previously Whitechapel

(20)

New

5469A/G

Exon 3a; 158Y/C

sequencing

4 families, 3 of Danish origin

(7)

7596G/A

Exon 4; 295V

sequencing

GTG 0.43**, GTA 0.57

(82)

7626G/A

Exon 4; 305Q

Pst I

+ 0.5,-0.5

(33)

7987T/C

Intron 4

Nhe I

+0.64,-0.36

(84)

9820G/A

Exon 5; R/Q

sequencing

1 family

(102)

8136-8153 (ATT)n

Intron 4; Alu 5 tail

sequencing

n = 6,8

(29)

9289-9333 (ATT)n

Intron 4; Alu 8 tail

sequencing

Highly polymorphic n = 5-18

(95)

9893C/G

Intron 5

Dde I

= +0.83,-0.17

(85)