Table 2. Factor XIII polymorphisms... | American Society of Hematology

Table 2.

Factor XIII polymorphisms

Polymorphims	Approximate allele frequency	Location	Association with disease	Biochemical/molecular phenotype
A-subunit
Val34Leu	0.25	Activation peptide	CAD, stroke, DVT (see Table 3)	Increases activation rate—affects fibrin structure
Tyr204Phe	0.01-0.03	Catalytic core	Miscarriage,¹⁰²stroke?¹⁴⁶	Specific activity?
Pro564Leu	0.21	Catalytic core	Stroke?¹⁴⁶	Specific activity?
Val650Ile	0.06	Beta-barrel	None	None
Glu651Gln	0.27	Beta-barrel	None	None
− 246G > A	—	Promoter	Unknown	Unknown
(AAAG)ⁿ	—	Promoter, around 800 to 900 bp upstream of transcription site	Unknown	Unknown
B-subunit
His95Arg	0.1	2^ndSushi	VTE?	Increases subunit dissociation?¹²⁴
B∗1	Varies in populations	Unknown	Unknown/unlikely?	Unknown
B∗2	Varies in populations	Unknown	Unknown/unlikely?	Unknown
B∗3	Varies in populations	Unknown	Unknown/unlikely?	Unknown
HS-1 Alu insertion	—	—	Unknown/unlikely?	Unknown

Polymorphims	Approximate allele frequency	Location	Association with disease	Biochemical/molecular phenotype
A-subunit
Val34Leu	0.25	Activation peptide	CAD, stroke, DVT (see Table 3)	Increases activation rate—affects fibrin structure
Tyr204Phe	0.01-0.03	Catalytic core	Miscarriage,¹⁰²stroke?¹⁴⁶	Specific activity?
Pro564Leu	0.21	Catalytic core	Stroke?¹⁴⁶	Specific activity?
Val650Ile	0.06	Beta-barrel	None	None
Glu651Gln	0.27	Beta-barrel	None	None
− 246G > A	—	Promoter	Unknown	Unknown
(AAAG)ⁿ	—	Promoter, around 800 to 900 bp upstream of transcription site	Unknown	Unknown
B-subunit
His95Arg	0.1	2^ndSushi	VTE?	Increases subunit dissociation?¹²⁴
B∗1	Varies in populations	Unknown	Unknown/unlikely?	Unknown
B∗2	Varies in populations	Unknown	Unknown/unlikely?	Unknown
B∗3	Varies in populations	Unknown	Unknown/unlikely?	Unknown
HS-1 Alu insertion	—	—	Unknown/unlikely?	Unknown

HS-1 indicates human specific-1; CAD, coronary artery disease; DVT, deep vein thrombosis; and VTE, venous thromboembolism.