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Table 1 Reported mutations resulting in fibrinogen storage disease

From: Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid

Name Nucleotide change Amino acid change (NM_000509.4) Amino acid change (originally described, without signal peptide)
Brescia [2] c.928G > C p.Gly310Arg p.Gly284Arg
Aguadilla [3, 68, 1013] c.1201C > T p.Arg401Trp p.Arg375Trp
Anger [4] c.1115_1129delGAGTTTATTACCAAG p.G372_Q376del p.G346_Q350del
AI DuPont [5] c.1018A > C p.Thr340pro p.Thr314pro
Pisa [9] c.1024G > A p.Asp342Asn p.Asp316Asn
Beograd [9] c.1174G > A p.Gly392Ser p.Gly366Ser