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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Met721Leu

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 721
Type of variant: help LP/P [Disclaimer]
Residue change: help From Methionine (M) to Leucine (L) at position 721 (M721L, p.Met721Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 2
Variant description: help In HEMA; mild.
Other resources: help


Sequence information Variant position: help 721
Protein sequence length: help 2351
Location on the sequence: help MENPGLWILGCHNSDFRNRG M TALLKVSSCDKNTGDYYEDS
Residue conservation: help 
Human                         MENPGLWILGCHNSDFRNRGMTALLKVSSCDKNTGDYYEDS

                              MENPGLWVLGCHNSDFRNRGMTALLKVSSCNRNIDDYYEDT

Mouse                         MENPGLWVLGCHNSDFRKRGMTALLKVSSCDKSTSDYYEEI

Pig                           MENPGLWVLGCHNSDLRNRGMTALLKVYSCDRDIGDYYDNT
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 583 – 730 Plastocyanin-like 4
Modified residue 737 – 737 Sulfotyrosine
Modified residue 738 – 738 Sulfotyrosine
Disulfide bond 649 – 730
Alternative sequence 9 – 2143 Missing. In isoform 2.



Literature citations
A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.
Liu M.; Murphy M.E.P.; Thompson A.R.;
Br. J. Haematol. 103:1051-1060(1998)
Cited for: VARIANTS HEMA LYS-98; GLY-101; CYS-133; HIS-145; ALA-159; LYS-163; ASP-164; PRO-179; MET-181; LYS-291; ALA-297; GLU-303; SER-312; HIS-391; ILE-427; TRP-437; ASN-450; ILE-454; LEU-470; SER-541; TRP-546; CYS-550; HIS-550; PRO-553; THR-560; ALA-578; ARG-603; ILE-633; ASN-683; LEU-721; CYS-742; THR-1698; GLY-1715; ARG-1779; THR-1791; HIS-1800; ALA-1801; PHE-1901; GLN-1960; GLN-1985; ILE-2007; TRP-2016; ASP-2022; ASN-2030 AND SER-2038;
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.