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UniProtKB/Swiss-Prot P00451: Variant p.Thr2004Arg

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 2004
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Arginine (R) at position 2004 (T2004R, p.Thr2004Arg).
Physico-chemical properties: help Change from medium size and polar (T) to large size and basic (R)
BLOSUM score: help -1
Variant description: help In HEMA; sporadic.


Sequence information Variant position: help 2004
Protein sequence length: help 2351
Location on the sequence: help VRKKEEYKMALYNLYPGVFE T VEMLPSKAGIWRVECLIGEH
Residue conservation: help
Human                         VRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEH

                              VRKKEEYKMAVYNLYPGVFETVEMLPSQVGIWRIECLIGEH

Mouse                         VRKKEEYKMAVYNLYPGVFETLEMIPSRAGIWRVECLIGEH

Pig                           VRKKEEYKMAVYNLYPGVFETVEMLPSKVGIWRIECLIGEH

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 2002 – 2007



Literature citations
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.