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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00488: Variant p.Gly593Ser

Coagulation factor XIII A chain
Gene: F13A1
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Variant information Variant position: help 593
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Serine (S) at position 593 (G593S, p.Gly593Ser).
Physico-chemical properties: help Change from glycine (G) to small size and polar (S)
BLOSUM score: help 0
Variant description: help In FA13AD; no effect on intracellular protein abundance; increased protein-glutamine gamma-glutamyltransferase activity; no effect on alpha-2-antiplasmin to fibrin cross-linking activity; no effect on fibrin alpha chain and gamma chain cross-linking activity; decreased clot fiber thickness.
Other resources: help


Sequence information Variant position: help 593
Protein sequence length: help 732
Location on the sequence: help TFDVTLEPLSFKKEAVLIQA G EYMGQLLEQASLHFFVTARI
Residue conservation: help
Human                         TFDVTLEPLSFKKEAVLIQAGEYMGQLLEQASLHFFVTARI

Mouse                         SFEETLDPFSSKKKEVLVRAGEYMSHLLEQGFLHFFVTARI

Rat                           SFEVTLDPLSLEKKEVLIRAGEYMSYLLEQGLLHFFVTARI

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 39 – 732 Coagulation factor XIII A chain
Helix 592 – 595



Literature citations
Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.
Ivaskevicius V.; Biswas A.; Bevans C.; Schroeder V.; Kohler H.P.; Rott H.; Halimeh S.; Petrides P.E.; Lenk H.; Krause M.; Miterski B.; Harbrecht U.; Oldenburg J.;
Haematologica 95:956-962(2010)
Cited for: VARIANTS FA13AD CYS-168; ARG-290; GLN-541; SER-593; HIS-612 AND GLY-669; Coagulation factor XIIIA subunit missense mutations affect structure and function at the various steps of factor XIII action.
Thomas A.; Biswas A.; Dodt J.; Philippou H.; Hethershaw E.; Ensikat H.J.; Ivaskevicius V.; Oldenburg J.;
Hum. Mutat. 37:1030-1041(2016)
Cited for: CHARACTERIZATION OF VARIANTS FA13AD GLN-38; LEU-167; CYS-168; GLN-172; ARG-290; TYR-343; ARG-416; PRO-530; GLN-541; SER-593; LYS-602; HIS-612; GLY-669; GLN-704 AND GLY-716; FUNCTION; CATALYTIC ACTIVITY;
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.