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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Gly1869Val

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 1869
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Valine (V) at position 1869 (G1869V, p.Gly1869Val).
Physico-chemical properties: help Change from glycine (G) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In HEMA; severe.
Other resources: help


Sequence information Variant position: help 1869
Protein sequence length: help 2351
Location on the sequence: help FDCKAWAYFSDVDLEKDVHS G LIGPLLVCHTNTLNPAHGRQ
Residue conservation: help 
Human                         FDCKAWAYFSDVDLEKDVHSGLIGPLLVCHTNTLNPAHGRQ

                              FDCKAWAYFSDVDLEKDVHSGLIGPLLICRSNTLNPAHGRQ

Mouse                         FDCKAWAYFSDVDLERDMHSGLIGPLLICHANTLNPAHGRQ

Pig                           FDCKAWAYFSDVDLEKDVHSGLIGPLLICRANTLNAAHGRQ
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.



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; Mutations of the factor VIII gene in Thai hemophilia A patients.
Akkarapatumwong V.; Oranwiroon S.; Pung-amritt P.; Treesucon A.; Thanootarakul P.; Veerakul G.; Mahasandana C.; Panyim S.; Yenchitsomanus P.;
Hum. Mutat. 15:117-118(2000)
Cited for: VARIANTS HEMA TYR-561; VAL-1869 AND CYS-2344; Genotype and phenotype of haemophilia A in Thai patients.
Yenchitsomanus P.; Akkarapatumwong V.; Pung-Amritt P.; Intorasoot S.; Thanootarakul P.; Oranwiroon S.; Veerakul G.; Mahasandana C.;
Haemophilia 9:179-186(2003)
Cited for: VARIANTS HEMA ILE-252; TYR-561; VAL-1869; SER-2248 AND CYS-2344;
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.