Variant position: 325 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 LLRLHQPVVLTDHVVPLCLP ERTFSERTLAFVRFSLVSGWG
Chimpanzee LLRLHQPVVLTDHVVPLCLP ERAFSERTLAFVRFSLVSGWG
Mouse LLRLHRPVTFTDYVVPLCLP EKSFSENTLARIRFSRVSGWG
Rat LVRLHRPVTFTDYVVPLCLP ERAFSENTLASIRFSRVSGWG
Bovine LLQLAQPVALGDHVAPLCLP DPDFADQTLAFVRFSAVSGWG
Rabbit LLRLLQPAALTNNVVPLCLP ERNFSESTLATIRFSRVSGWG
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
213 – 466 Factor VII heavy chain
213 – 452 Peptidase S1
Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.
Bernardi F.; Castaman G.; Pinotti M.; Ferraresi P.; di Iasio M.G.; Lunghi B.; Rodeghiero F.; Marchetti G.;
Hum. Mutat. 8:108-115(1996)
Cited for: VARIANTS FA7D TRP-283; LYS-325; VAL-358; GLN-364 AND GLU-402; VARIANT GLN-413;
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;
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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