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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Gly439Ser

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 439
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Serine (S) at position 439 (G439S, p.Gly439Ser).
Physico-chemical properties: help Change from glycine (G) to small size and polar (S)
BLOSUM score: help 0
Variant description: help In HEMA; moderate.
Other resources: help


Sequence information Variant position: help 439
Protein sequence length: help 2351
Location on the sequence: help LAPDDRSYKSQYLNNGPQRI G RKYKKVRFMAYTDETFKTRE
Residue conservation: help
Human                         LAPDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTRE

                              PTPNDRSHKNLYLNNGPQRIGKKYKKVRFVAYTDETFKTRE

Mouse                         PTSDNGSYKSQYLSNGPHRIGRKYKKVRFIAYTDETFKTRE

Pig                           PSPSDRSYKSLYLNSGPQRIGRKYKKARFVAYTDVTFKTRK

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
Alternative sequence 9 – 2143 Missing. In isoform 2.



Literature citations
Analysis of 18 novel mutations in the factor VIII gene.
Bicocchi M.P.; Pasino M.; Lanza T.; Bottini F.; Boeri E.; Mori P.G.; Molinari A.C.; Rosano C.; Acquila M.;
Br. J. Haematol. 122:810-817(2003)
Cited for: VARIANTS HEMA LYS-72; HIS-155; GLU-181; ILE-254; SER-439; GLU-529; THR-567; SER-1804; SER-2051; ASN-2141 AND GLN-2262 INS; Factor VIII Antigen, Activity, and Mutations in Hemophilia A.
Nair P.S.; Shetty S.; Ghosh K.;
Clin. Appl. Thromb. Hemost. 22:381-385(2016)
Cited for: VARIANTS HEMA SER-439 AND THR-723;
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.