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UniProtKB/Swiss-Prot P00451: Variant p.Arg2228Gln

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 2228
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 2228 (R2228Q, p.Arg2228Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In HEMA; severe/moderate.
Other resources: help


Sequence information Variant position: help 2228
Protein sequence length: help 2351
Location on the sequence: help QITASSYFTNMFATWSPSKA R LHLQGRSNAWRPQVNNPKEW
Residue conservation: help 
Human                         QITASSYFTNMFATWSPSKARLHLQGRSNAWRPQVNNPKEW

                              QITASSYLSSMLATWSPSQARLHLQGRTNAWRPQANNPKEW

Mouse                         QITASSYFTNMFATWSPSQARLHLQGRTNAWRPQVNDPKQW

Pig                           QITASSHLSNIFATWSPSQARLHLQGRTNAWRPRVSSAEEW
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 20 – 2351 Coagulation factor VIII
Chain 1668 – 2351 Factor VIIIa light chain
Domain 2193 – 2345 F5/8 type C 2
Disulfide bond 2193 – 2345



Literature citations
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.
Youssoufian H.; Antonarakis S.E.; Bell W.; Griffin A.M.; Kazazian H.H. Jr.;
Am. J. Hum. Genet. 42:718-725(1988)
Cited for: VARIANT HEMA GLN-2228; Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.
Casula L.; Murru S.; Pecorara M.; Ristaldi M.S.; Restagno G.; Mancuso G.; Morfini M.; de Biasi R.; Baudo F.; Carbonara A.;
Blood 75:662-670(1990)
Cited for: VARIANTS HEMA GLN-2228 AND LEU-2326; Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.
Higuchi M.; Kazazian H.H. Jr.; Kasch L.; Warren T.C.; McGinniss M.J.; Phillips J.A. III; Kasper C.; Janco R.; Antonarakis S.E.;
Proc. Natl. Acad. Sci. U.S.A. 88:7405-7409(1991)
Cited for: VARIANTS HEMA THR-108; VAL-110; GLY-285; HIS-301; SER-312; ARG-444; HIS-492; GLY-561; CYS-612; THR-723; PHE-1699; HIS-1800; TYR-1803; ASP-1941; SER-1941; HIS-2169; GLN-2228 AND CYS-2323; Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.
Becker J.; Schwaab R.; Moeller-Taube A.; Schwaab U.; Schmidt W.; Brackmann H.H.; Grimm T.; Olek K.; Oldenburg J.;
Am. J. Hum. Genet. 58:657-670(1996)
Cited for: VARIANTS HEMA ARG-26; LYS-48; ASP-89; ASP-99; VAL-101; ARG-117; GLY-135; ASP-219; ARG-278; LEU-301; GLN-302 DEL; PRO-327; PRO-659; LEU-1012; GLU-1260; CYS-1708; ASN-1865; ARG-1873; THR-1971; TRP-2016; GLN-2228; LEU-2326 AND SER-2344; Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum.
Strmecki L.; Benedik-Dolnicar M.; Vouk K.; Komel R.;
Hum. Mutat. 13:413-413(1999)
Cited for: VARIANTS HEMA ARG-19; HIS-301; LEU-308; HIS-2169; GLN-2228 AND GLN-2326; Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis.
Tagariello G.; Belvini D.; Salviato R.; Are A.; De Biasi E.; Goodeve A.; Davoli P.;
Haematologica 85:525-529(2000)
Cited for: VARIANTS HEMA HIS-35; LEU-295; SER-307; CYS-1909; PRO-2058; GLN-2228 AND ARG-2332; Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.
Ivaskevicius V.; Jurgutis R.; Rost S.; Muller A.; Schmitt C.; Wulff K.; Herrmann F.H.; Muller C.R.; Schwaab R.; Oldenburg J.;
Br. J. Haematol. 112:1062-1070(2001)
Cited for: VARIANTS HEMA VAL-255; GLU-323; CYS-391; CYS-550; VAL-586; CYS-1708; CYS-1800; ALA-1942; PRO-1963; CYS-2036; CYS-2124; ARG-2172; CYS-2182; GLN-2228 AND ALA-2307; Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.
Theophilus B.D.M.; Enayat M.S.; Williams M.D.; Hill F.G.H.;
Haemophilia 7:381-391(2001)
Cited for: VARIANTS HEMA ASP-132; LYS-141; GLU-466; THR-470; HIS-503; GLY-602; THR-1853; GLN-1985; ARG-2004; TRP-2016; TYR-2093; HIS-2169; HIS-2182; VAL-2198 AND GLN-2228;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.