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. 2020 Jun 29;21(13):4616. doi: 10.3390/ijms21134616

Table 2.

Description of clinical studies and mutations in exons of FGB and FGG genes encoding beta and gamma nodules of fibrinogen molecule associated with thrombotic complications.

Name/Origin Plasma Protein Native Protein Gene Gene Status Type Haemorraghes Numbers of Studied Family Member/Positive Numbers of Mutation Numbers of Thrombotic Complications Other Thrombophilic States References
Fibrinogen Bβ Chain Mutations Associated with Thrombosis
PARIS IX Bβ(236) Tyr>Cys p.Tyr266Cys 5909A>G
IVS7+1G>C
Compound Hypofib. Yes 2/1 2 Not listed [6]
ALGERIAN Bβ(269) Tyr>His p.Tyr299His c.895T>C Homozyg. Afib. Yes 1/1 1 Heterozygous Factor V Leiden mutation [48]
NORTHERN ITALY Bβ(277) Ala>Ser p.Ala307Ser c.919G>T Homozyg. Afib. No 3/1 3 No other thrombophilic state [67]
MARTIN II Bβ(338) Tyr>His p.Tyr368His c.1102T>C Homozyg. Hypofib. No 4/2 5 No other thrombophilic state [26]
GENEVA Bβ(17) Arg>Stop
Bβ(414) Gly>Ser
p.Arg47Stop
p.Gly444Ser
c.139C>T
c.1330G>C
Compound Afib. Yes 4/2 2 No other thrombophilic state [68]
MUMBAI Bβ(434) Gly>Asp p.Gly464Asp c.G1391A Homozyg. Afib. Yes 1/1 1 Heterozygous PAI 4G/5G polymorphism [69]
PORTUGUESE Bβ(442) Gly>Val p.Gly472Val c.1415G>T Homozyg. Hypofib. No 1/1 5 No other thrombophilic state [48]
Fibrinogen γ Chain Mutations Associated with Thrombosis
COLUMBUS γ(200) Gly>Val p.Gly226Val c.677G>T Heterozyg. Hypofib. Yes 8/2 2 Heterozygous Factor V Leiden, MTHFR C677T mutations [70]
MARTIN III γ(249) Glu>Stop p.Glu275Stop c.823G>T Heterozyg. Hypofib. No 1/1 3 No other thrombophilic state [5]
DARLINGHURST γ(253) Trp>Gly p.Trp279Gly c.835T>G Homozyg. Hypofib. Yes 2/1 2 No other thrombophilic state [71]
SAINT GERMAIN II γ(345) Asn>Ser p.Asn371Ser 7687A>G Heterozyg. Hypofib. No 3/1 2 Heterozygous Factor V Leiden mutation, prothrombin G20210 mutation [72]

Afib, afibrinogenemia; Heterozyg, heterozygous; Heterozyg, heterozygous; Hypofibt, hypofibrinogenemia; PAI, plasminogen activator inhibitor-1.