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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Thr686Arg

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 686
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Arginine (R) at position 686 (T686R, p.Thr686Arg).
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.


Sequence information Variant position: help 686
Protein sequence length: help 2351
Location on the sequence: help DFLSVFFSGYTFKHKMVYED T LTLFPFSGETVFMSMENPGL
Residue conservation: help
Human                         DFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGL

                              DFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGL

Mouse                         DFLSIFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGL

Pig                           DFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGL

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 20 – 2351 Coagulation factor VIII
Chain 20 – 1332 Factor VIIIa heavy chain, 200 kDa isoform
Chain 20 – 759 Factor VIIIa heavy chain, 92 kDa isoform
Domain 399 – 730 F5/8 type A 2
Domain 583 – 730 Plastocyanin-like 4
Disulfide bond 649 – 730
Alternative sequence 9 – 2143 Missing. In isoform 2.



Literature citations
Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism.
Morichika S.; Shima M.; Kamisue S.; Tanaka I.; Imanaka Y.; Suzuki H.; Shibata H.; Pemberton S.; Gale K.; McVey J.; Tuddenham E.G.D.; Yoshioka A.;
Br. J. Haematol. 98:901-906(1997)
Cited for: VARIANTS HEMA CYS-274; CYS-492; ARG-498; HIS-550; ARG-686; CYS-1708; GLN-1960; HIS-2169; CYS-2178; ALA-2264 AND VAL-2304;
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.