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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01008: Variant p.Ser426Leu

Antithrombin-III
Gene: SERPINC1
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Variant information Variant position: help 426
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Leucine (L) at position 426 (S426L, p.Ser426Leu).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L)
BLOSUM score: help -2
Variant description: help In AT3D; type-II; Denver/Milano-2; deprived of inhibitory activity.
Other resources: help


Sequence information Variant position: help 426
Protein sequence length: help 464
Location on the sequence: help EVNEEGSEAAASTAVVIAGR S LNPNRVTFKANRPFLVFIRE
Residue conservation: help 
Human                         EVNEEGSEAAASTAVVIAGRSLNPNRVTFKANRPFLVFIRE

Mouse                         EVNEEGSEAAASTSVVITGRSLNPNRVTFKANRPFLVLIRE

Bovine                        EVNEEGSEAAASTVISIAGRSLNSDRVTFKANRPILVLIRE

Sheep                         EVNEEGSEAAASTVISIAGRSLNLNRVTFQANRPFLVLIRE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 33 – 464 Antithrombin-III
Site 425 – 426 Reactive bond
Disulfide bond 279 – 462
Mutagenesis 414 – 414 A -> K. Reduces interaction with thrombin by 99%.
Mutagenesis 414 – 414 A -> Q. Reduces interaction with thrombin by 80%.
Beta strand 423 – 426



Literature citations
Antithrombin mutation database: 2nd (1997) update.
Lane D.A.; Bayston T.; Olds R.J.; Fitches A.C.; Cooper D.N.; Millar D.S.; Jochmans K.; Perry D.J.; Okajima K.; Thein S.L.; Emmerich J.;
Thromb. Haemost. 77:197-211(1997)
Cited for: VARIANTS AT3D SER-17; PRO-23; ASN-39; CYS-56; LEU-73; CYS-79; HIS-79; SER-79; ASN-87 DEL; CYS-89; LEU-90; CYS-95; SER-95; PRO-98; THR-112; PHE-131; VAL-131; LYS-133; 138-PHE-LYS-139 DEL; PRO-148; PRO-150; PRO-158; TYR-160; GLN-161; CYS-198; HIS-198; ILE-218 DEL; ASP-219; LYS-219; ARG-257; LYS-269; ILE-283; ASN-316; LYS-334; ARG-412; THR-414; PRO-416; SER-416; VAL-419; ASP-424; CYS-425; HIS-425; PRO-425; LEU-426; CYS-434; LEU-434; SER-434; THR-436; LYS-437; GLY-438; MET-438; LEU-439; THR-439; THR-453; ARG-456; THR-457; ASP-459; LEU-461 AND PHE-462; VARIANTS GLU-30; THR-52 AND CYS-190; Antithrombin-III Denver, a reactive site variant.
Stephens A.W.; Thalley B.S.; Hirs C.H.W.;
J. Biol. Chem. 262:1044-1048(1987)
Cited for: VARIANT AT3D LEU-426; Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.
David D.; Ribeiro S.; Ferrao L.; Gago T.; Crespo F.;
Am. J. Hematol. 76:163-171(2004)
Cited for: VARIANTS AT3D LEU-179; CYS-425 AND LEU-426;
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.