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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Val556Asp

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 556
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Aspartate (D) at position 556 (V556D, p.Val556Asp).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to medium size and acidic (D)
BLOSUM score: help -3
Variant description: help In HEMA; moderate.


Sequence information Variant position: help 556
Protein sequence length: help 2351
Location on the sequence: help VEDGPTKSDPRCLTRYYSSF V NMERDLASGLIGPLLICYKE
Residue conservation: help
Human                         VEDGPTKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKE

                              VEDGPTKSDPRCLTRYYSSFINLERDLASGLIGPLLICYKE

Mouse                         VEDGPTKSDPRCLTRYYSSFINPERDLASGLIGPLLICYKE

Pig                           VEDGPTKSDPRCLTRYYSSSINLEKDLASGLIGPLLICYKE

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 399 – 573 Plastocyanin-like 3
Disulfide bond 547 – 573
Alternative sequence 9 – 2143 Missing. In isoform 2.



Literature citations
Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.
Tavassoli K.; Eigel A.; Wilke K.; Pollmann H.; Horst J.;
Hum. Mutat. 12:301-303(1998)
Cited for: VARIANTS HEMA CYS-133; ARG-498; CYS-550; ASP-556; HIS-1708; VAL-1869; SER-2148; HIS-2169; VAL-2183 AND ASN-2209;
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.