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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.His1867Pro

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 1867
Type of variant: help LP/P [Disclaimer]
Residue change: help From Histidine (H) to Proline (P) at position 1867 (H1867P, p.His1867Pro).
Physico-chemical properties: help Change from medium size and polar (H) to medium size and hydrophobic (P)
BLOSUM score: help -2
Variant description: help In HEMA; mild.


Sequence information Variant position: help 1867
Protein sequence length: help 2351
Location on the sequence: help DEFDCKAWAYFSDVDLEKDV H SGLIGPLLVCHTNTLNPAHG
Residue conservation: help 
Human                         DEFDCKAWAYFSDVDLEKDVHSGLIGPLLVCHTNTLNPAHG

                              DEFDCKAWAYFSDVDLEKDVHSGLIGPLLICRSNTLNPAHG

Mouse                         DEFDCKAWAYFSDVDLERDMHSGLIGPLLICHANTLNPAHG

Pig                           DEFDCKAWAYFSDVDLEKDVHSGLIGPLLICRANTLNAAHG
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 1713 – 1877 Plastocyanin-like 5
Disulfide bond 1851 – 1877
Alternative sequence 9 – 2143 Missing. In isoform 2.
Helix 1864 – 1868



Literature citations
Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients.
Arruda V.R.; Pieneman W.C.; Reitsma P.H.; Deutz-Terlouw P.P.; Annichino-Bizzacchi J.M.; Brieet E.; Costa F.F.;
Blood 86:3015-3020(1995)
Cited for: VARIANTS HEMA ARG-113; ASN-202; LEU-275; GLY-285; CYS-301; ASP-637; PHE-1808; PRO-1867; GLN-1960; HIS-2169; CYS-2178 AND THR-2281; VARIANT VAL-2257;
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.