Variant position: 283 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 NLIAVLGEHDLSEHDGDEQS RRVAQVIIPSTYVPGTTNHDI
Chimpanzee NLIAVLGEHDLSEHDGDEQS RRVAQVIIPSTYIPGTTNHDI
Mouse NITVVMGEHDFSEKDGDEQV RRVTQVIMPDKYIRGKINHDI
Rat NITVVLGEHDFSEKEGTEQV RLVEQVIMPNKYTRGRTDHDI
Bovine NLTAVLGEHDLSRVEGPEQE RRVAQIIVPKQYVPGQTDHDV
Rabbit NLTIVLGEHDLSEHEGDEQV RHVAQLIMPDKYVPGKTDHDI
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.
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;
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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