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UniProtKB/Swiss-Prot P00451: Variant p.Arg1985Gln

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 1985
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 1985 (R1985Q, p.Arg1985Gln).
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; mild.
Other resources: help


Sequence information Variant position: help 1985
Protein sequence length: help 2351
Location on the sequence: help SMGSNENIHSIHFSGHVFTV R KKEEYKMALYNLYPGVFETV
Residue conservation: help 
Human                         SMGSNENIHSIHFSGHVFTVRKKEEYKMALYNLYPGVFETV

                              SMGSNENIHSIHFSGHVFTVRKKEEYKMAVYNLYPGVFETV

Mouse                         SMGNNENIQSIHFSGHVFTVRKKEEYKMAVYNLYPGVFETL

Pig                           SMGSNENIHSIHFSGHVFSVRKKEEYKMAVYNLYPGVFETV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 20 – 2351 Coagulation factor VIII
Chain 1668 – 2351 Factor VIIIa light chain
Domain 1713 – 2040 F5/8 type A 3
Domain 1887 – 2040 Plastocyanin-like 6
Alternative sequence 9 – 2143 Missing. In isoform 2.
Beta strand 1982 – 1997



Literature citations
A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.
Liu M.; Murphy M.E.P.; Thompson A.R.;
Br. J. Haematol. 103:1051-1060(1998)
Cited for: VARIANTS HEMA LYS-98; GLY-101; CYS-133; HIS-145; ALA-159; LYS-163; ASP-164; PRO-179; MET-181; LYS-291; ALA-297; GLU-303; SER-312; HIS-391; ILE-427; TRP-437; ASN-450; ILE-454; LEU-470; SER-541; TRP-546; CYS-550; HIS-550; PRO-553; THR-560; ALA-578; ARG-603; ILE-633; ASN-683; LEU-721; CYS-742; THR-1698; GLY-1715; ARG-1779; THR-1791; HIS-1800; ALA-1801; PHE-1901; GLN-1960; GLN-1985; ILE-2007; TRP-2016; ASP-2022; ASN-2030 AND SER-2038; 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; Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses.
Liu M.-L.; Nakaya S.; Thompson A.R.;
Thromb. Haemost. 87:273-276(2002)
Cited for: VARIANTS HEMA GLU-67; 84-ARG-PRO-85 DEL; PRO-85 DEL; MET-181; TYR-186; GLY-220; LEU-262; ARG-412; PHE-438; ASP-439; ARG-470; SER-513; SER-541; CYS-550; GLY-554; SER-583; GLN-594; ILE-609; CYS-612; ASN-635; THR-699; ILE-701; ILE-721; ARG-1779; LEU-1780; THR-1791; PRO-1798; HIS-1800; GLY-1848; ARG-1907; CYS-1907; THR-1939; VAL-1939; ILE-1982; GLN-1985; CYS-2015; TRP-2016; SER-2038; HIS-2169; ILE-2192 AND LEU-2326;
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.