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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Lys67Glu

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 67
Type of variant: help LP/P [Disclaimer]
Residue change: help From Lysine (K) to Glutamate (E) at position 67 (K67E, p.Lys67Glu).
Physico-chemical properties: help Change from large size and basic (K) to medium size and acidic (E)
BLOSUM score: help 1
Variant description: help In HEMA; severe.


Sequence information Variant position: help 67
Protein sequence length: help 2351
Location on the sequence: help ARFPPRVPKSFPFNTSVVYK K TLFVEFTDHLFNIAKPRPPW
Residue conservation: help 
Human                         ARFPPRVPKSFPFNTSVVYKKTLFVEFTDHLFNIAKPRPPW

                              TSFSSRVPGSLPLTTSVTYRKTVFVEFTDDLFNIAKPRPPW

Mouse                         SRFLPRMSTSFPFNTSIMYKKTVFVEYKDQLFNIAKPRPPW

Pig                           TRFPATAPGALPLGPSVLYKKTVFVEFTDQLFSVARPRPPW
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 20 – 348 F5/8 type A 1
Domain 20 – 198 Plastocyanin-like 1
Glycosylation 60 – 60 N-linked (GlcNAc...) asparagine
Alternative sequence 9 – 2143 Missing. In isoform 2.
Beta strand 65 – 75



Literature citations
Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses.
Liu M.-L.; Nakaya S.; Thompson A.R.;
Thromb. Haemost. 87:273-276(2002)
Cited for: VARIANTS HEMA GLU-67; 84-ARG-PRO-85 DEL; PRO-85 DEL; MET-181; TYR-186; GLY-220; LEU-262; ARG-412; PHE-438; ASP-439; ARG-470; SER-513; SER-541; CYS-550; GLY-554; SER-583; GLN-594; ILE-609; CYS-612; ASN-635; THR-699; ILE-701; ILE-721; ARG-1779; LEU-1780; THR-1791; PRO-1798; HIS-1800; GLY-1848; ARG-1907; CYS-1907; THR-1939; VAL-1939; ILE-1982; GLN-1985; CYS-2015; TRP-2016; SER-2038; HIS-2169; ILE-2192 AND LEU-2326;
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.