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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00734: Variant p.Arg314Cys

Prothrombin
Gene: F2
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Variant information Variant position: help 314
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Cysteine (C) at position 314 (R314C, p.Arg314Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Variant description: help In FA2D; Barcelona/Madrid.
Other resources: help


Sequence information Variant position: help 314
Protein sequence length: help 622
Location on the sequence: help AVEEETGDGLDEDSDRAIEG R TATSEYQTFFNPRTFGSGEA
Residue conservation: help
Human                         AVEEETGDGLDE--DSDRAIEGRTATSEYQTFFNPRTFGSGEA

Mouse                         AVGEENY-------DVDESIAGRTTDAEFHTFFNEKTFGLG

Rat                           AVGEENH-------DGDESIAGRTTDAEFHTFFDERTFGLG

Pig                           PVDEEVGDALGE--NADAAIEGRTTADDFQPFFNEKTFGAG

Bovine                        PVDGDLGDRLGEDPDPDAAIEGRTSEDHFQPFFNEKTFGAG

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 44 – 622 Prothrombin
Peptide 199 – 327 Activation peptide fragment 2
Site 314 – 315 Cleavage; by factor Xa
Mutagenesis 314 – 314 R -> Q. Loss of cleavage by factor Xa.



Literature citations
Molecular defect of prothrombin Barcelona. Substitution of cysteine for arginine at residue 273.
Rabiet M.-J.; Furie B.C.; Furie B.;
J. Biol. Chem. 261:15045-15048(1986)
Cited for: VARIANT FA2D CYS-314; PROTEIN SEQUENCE OF 310-327;
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.