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UniProtKB/Swiss-Prot P00451: Variant p.Ile2051Ser

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 2051
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Serine (S) at position 2051 (I2051S, p.Ile2051Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to small size and polar (S)
BLOSUM score: help -2
Variant description: help In HEMA; severe.


Sequence information Variant position: help 2051
Protein sequence length: help 2351
Location on the sequence: help TLFLVYSNKCQTPLGMASGH I RDFQITASGQYGQWAPKLAR
Residue conservation: help 
Human                         TLFLVYSNKCQTPLGMASGHIRDFQITASGQYGQWAPKLAR

                              TLFLVYSKKCQTPLGMASGHIRDFQITASGQYGQWAPKLAR

Mouse                         TLFLVYSKQCQIPLGMASGSIRDFQITASGHYGQWAPNLAR

Pig                           TTFLVYSKECQAPLGMASGRIRDFQITASGQYGQWAPKLAR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 20 – 2351 Coagulation factor VIII
Chain 1668 – 2351 Factor VIIIa light chain
Domain 2040 – 2188 F5/8 type C 1
Disulfide bond 2040 – 2188
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;
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.