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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00488: Variant p.Val35Leu

Coagulation factor XIII A chain
Gene: F13A1
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Variant information Variant position: help 35
Type of variant: help LB/B
Residue change: help From Valine (V) to Leucine (L) at position 35 (V35L, p.Val35Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Polymorphism: help There are four main allelic forms of this protein; F13A*1A, F13A*1B, F13A*2A and F13A*2B. In addition two other intermediate forms (F13A*(2)A and F13A*(2)B) seem to exist. The sequence shown is that of F13A*1B.
Variant description: help Higher specific activity.
Other resources: help


Sequence information Variant position: help 35
Protein sequence length: help 732
Location on the sequence: help VPPNNSNAAEDDLPTVELQG V VPRGVNLQEFLNVTSVHLFK
Residue conservation: help 
Human                         VPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFK

Mouse                         VPPNNSNAAEVDLPTEELQGLVPRGVNLKDYLNVTAVHLFK

Rat                           IPPNNSNAAGVDLPTEDLQGLVPRGVSLKDYLNVTAVHLFK
Sequence annotation in neighborhood: help
TypePositionsDescription
Propeptide 2 – 38 Activation peptide



Literature citations
The Val34Leu polymorphism in the A subunit of coagulation factor XIII contributes to the large normal range in activity and demonstrates that the activation peptide plays a role in catalytic activity.
Kangsadalampai S.; Board P.G.;
Blood 92:2766-2770(1998)
Cited for: CHARACTERIZATION OF VARIANT LEU-35; Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS LEU-35; ILE-551; LEU-565; GLN-589 AND ILE-651;
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.