Variant position: 426 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 464 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human EVNEEGSEAAASTAVVIAGR SLNPNRVTFKANRPFLVFIRE
Mouse EVNEEGSEAAASTSVVITGR SLNPNRVTFKANRPFLVLIRE
Bovine EVNEEGSEAAASTVISIAGR SLNSDRVTFKANRPILVLIRE
Sheep EVNEEGSEAAASTVISIAGR SLNLNRVTFQANRPFLVLIRE
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
33 – 464 Antithrombin-III
425 – 426 Reactive bond
279 – 462
414 – 414 A -> K. Reduces interaction with thrombin by 99%.
414 – 414 A -> Q. Reduces interaction with thrombin by 80%.
423 – 426
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; PHE-138-139-LYS 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;
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