Sequence information
Variant position: 438 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:
TAVVIAGRSLNPNRVTFKAN
R PFLVFIREVPLNTIIFMGRV
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 TAVVIAGRSLNPNRVTFKANR PFLVFIREVPLNTIIFMGRV
Mouse TSVVITGRSLNPNRVTFKANR PFLVLIREVALNTIIFMGRV
Bovine TVISIAGRSLNSDRVTFKANR PILVLIREVALNTIIFMGRV
Sheep TVISIAGRSLNLNRVTFQANR PFLVLIREVALNTIIFMGRV
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.
Literature citations
Hereditary antithrombin III deficiency: identification of an arginine-406 to methionine point mutation near protease reactive site.
Tsuji H.; Takada O.; Nakagawa M.; Tanaka S.; Hashimoto-Gotoh T.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT AT3D MET-438;
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;
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.