Table 2.

Missense and nonsense mutations identified in the SERPING1 gene.

Affected exon	cDNA position	Protein position	Number of affected families	Number of affected patients	References
2	c.1A>G	p.Met1Val	1	2	(23)
3	c.65C>G	p.Ser22*	1	2	(7)
3	c.94C>T	p.Gln32*	3	12	(24)
3	c.253G>T	p.Glu85*	1	1	(3)
3	c.389G>A	p.Cys130Tyr	2	6	(24)
3	c.425T>C	p.Leu142Ser	1	3	(25)
3	c.503C>A	p.Ala168Asp	1	2	(26)
4	c.553G>C	p.Ala185Pro	1	6	(3)
4	c.596A>C	p.Tyr199Ser	1	3	-
4	c.667C>T	p.Gln223*	1	3	(24)
5	c.728T>C	p.Leu243Pro	1	1	(27)
5	c.752T>G	p.Leu251Arg	1	2	(3)
6	c.911A>G	p.Asp304Gly	1	3	(3)
6	c.988T>G	p.Tyr330Asp	1	6	(25)
7	c.1180A>C	p.Thr394Pro	1	1	(28)
7	c.1223A>T	p.Asp408Val	1	1	(24)
8	c.1396C>T	p.Arg466Cys	5	13	(29)
8	c.1418T>A	p.Val473Glu	1	1	(24)
8	c.1423C>T	p.Gln475*	1	1	(3)
8	c.1478G>A	p.Gly493Glu	1	1	(30)
8	c.1480C>T	p.Arg494*	4	6	(28)
8	c.1493C>G	p.Pro498Arg	1	1	(24)