Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Leu326Pro

Coagulation factor VIII
Gene: F8
Feedback?
Variant information Variant position: help 326
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 326 (L326P, p.Leu326Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In HEMA.


Sequence information Variant position: help 326
Protein sequence length: help 2351
Location on the sequence: help EISPITFLTAQTLLMDLGQF L LFCHISSHQHDGMEAYVKVD
Residue conservation: help 
Human                         EISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVD

                              EISPITFLTAQTFLMDLGQFLLFCHIPSHQHDGMEAYVKVD

Mouse                         EISPITFLTAQTLLIDLGQFLLFCHISSHKHDGMEAYVKVD

Pig                           EISPLTFLTAQTFLMDLGQFLLFCHISSHHHGGMEAHVRVE
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 206 – 348 Plastocyanin-like 2
Disulfide bond 267 – 348
Alternative sequence 9 – 2143 Missing. In isoform 2.
Beta strand 323 – 329



Literature citations
Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions.
Habart D.; Kalabova D.; Novotny M.; Vorlova Z.;
J. Thromb. Haemost. 1:773-781(2003)
Cited for: VARIANTS HEMA ARG-26; PRO-326; PHE-329; HIS-391; GLY-401; TYR-522; THR-540; TRP-546; TYR-588; CYS-683; SER-720; TYR-1066; HIS-1768; PRO-1771; HIS-1800; ASP-1904; PRO-1980; CYS-2169; HIS-2169; ASP-2174; CYS-2178; HIS-2178; CYS-2182; GLY-2228; PHE-2229; LEU-2319; CYS-2323; HIS-2323 AND SER-2345;
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.