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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, 6–8, 10–13]

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

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BMC Gastroenterology

ISSN: 1471-230X

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