Variant position: 212 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 466 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 EYPCGKIPILEKRNASKPQG RIVGGKVCPKGECPWQVLLLV
Chimpanzee EYPCGKIPILEKRNASKPQG RIVGGKVCPKGECPWQVLLLV
Mouse EYPCGRIPVVEKRNSSSRQG RIVGGNVCPKGECPWQAVLKI
Rat EYPCGRIPVVEKRNFSRPQG RIVGGYVCPKGECPWQAVLKF
Bovine EYPCGKIPVLEKRNGSKPQG RIVGGHVCPKGECPWQAMLKL
Rabbit DYPCGKVPALEKRGASNPQG RIVGGKVCPKGECPWQAALMN
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
61 – 212 Factor VII light chain
212 – 213 Cleavage; by factor Xa, factor XIIa, factor IXa, or thrombin
205 – 205 N-linked (GlcNAc...) asparagine
195 – 322
Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor.
Chaing S.; Clarke B.; Sridhara S.; Chu K.; Friedman P.; Vandusen W.; Roberts H.R.; Blajchman M.; Monroe D.M.; High K.A.;
Cited for: VARIANTS FA7D GLN-139 AND GLN-212;
Twenty two novel mutations of the factor VII gene in factor VII deficiency.
Wulff K.; Herrmann F.H.;
Hum. Mutat. 15:489-496(2000)
Cited for: VARIANTS FA7D LEU-64; PRO-120; CYS-128; LYS-154; SER-157; ARG-160; ARG-195; GLN-212; ASP-216; TYR-254; THR-266; HIS-302; VAL-304; CYS-307; MET-312; LYS-325; PHE-341; VAL-354; ILE-358; ARG-363; PHE-370; HIS-403 AND MET-419;
Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India.
Mota L.; Shetty S.; Idicula-Thomas S.; Ghosh K.;
Clin. Chim. Acta 409:106-111(2009)
Cited for: VARIANTS FA7D ARG-82; ARG-177; THR-198; GLN-212; PRO-251; ARG-323; ARG-344; PHE-370; MET-384; GLU-398 AND ARG-408;
Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.
Herrmann F.H.; Wulff K.; Auerswald G.; Schulman S.; Astermark J.; Batorova A.; Kreuz W.; Pollmann H.; Ruiz-Saez A.; De Bosch N.; Salazar-Sanchez L.;
Cited for: VARIANTS FA7D LEU-64; GLN-73; PHE-82; PHE-84 DEL; GLY-88; PRO-88; PRO-120; CYS-128; ASP-138; GLN-139; LYS-154; SER-156; SER-157; ARG-160; PHE-171; PRO-181; ASN-183; PHE-186; SER-189; LEU-194; THR-194; ARG-195; GLN-212; ASP-216; ASN-241; THR-251; ARG-254; TYR-254; PRO-264; THR-266; ASN-272; ASN-277; TRP-283; ILE-298; GLN-301; ASN-302; HIS-302; THR-304; VAL-304; CYS-307; HIS-307; MET-312; PHE-321; LYS-325; GLN-326; CYS-337; PHE-341; SER-343; SER-345; CYS-350; VAL-354; ILE-358; PRO-360; ARG-363; HIS-363; GLN-364; TRP-364; PHE-370; TRP-375; MET-384; THR-387; VAL-387; SER-388; CYS-391; SER-391; GLU-401; HIS-403; ASN-404; GLY-413; MET-419; PHE-422; ALA-425; CYS-425; THR-429; ASP-432; GLU-435 AND PHE-437;
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