UniProtKB/SwissProt variant VAR

Coagulation factor VIII
Gene: F8
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Variant information Variant position:

686
Type of variant:

LP/P [Disclaimer]
Residue change:

From Threonine (T) to Arginine (R) at position 686 (T686R, p.Thr686Arg).
Physico-chemical properties:

Change from medium size and polar (T) to large size and basic (R)
BLOSUM score:

-1
Variant description:

In HEMA.

Sequence information Variant position:

686
Protein sequence length:

2351
Location on the sequence:

DFLSVFFSGYTFKHKMVYED T LTLFPFSGETVFMSMENPGL
Residue conservation:

Human                         DFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGL

                              DFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGL

Mouse                         DFLSIFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGL

Pig                           DFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGL

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Thr686Arg