Sequence information
Variant position: 304 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:
RVAQVIIPSTYVPGTTNHDI
A LLRLHQPVVLTDHVVPLCLP
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 RVAQVIIPSTYVPGTTNHDIA LLRLHQPVVLTDHVVPLCLP
Chimpanzee RVAQVIIPSTYIPGTTNHDIA LLRLHQPVVLTDHVVPLCLP
Mouse RVTQVIMPDKYIRGKINHDIA LLRLHRPVTFTDYVVPLCLP
Rat LVEQVIMPNKYTRGRTDHDIA LVRLHRPVTFTDYVVPLCLP
Bovine RVAQIIVPKQYVPGQTDHDVA LLQLAQPVALGDHVAPLCLP
Rabbit HVAQLIMPDKYVPGKTDHDIA LLRLLQPAALTNNVVPLCLP
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
Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews.
Tamary H.; Fromovich Y.; Shalmon L.; Reich Z.; Dym O.; Lanir N.; Brenner B.; Paz M.; Luder A.S.; Blau O.; Korostishevsky M.; Zaizov R.; Seligsohn U.;
Thromb. Haemost. 76:283-291(1996)
Cited for: VARIANT FA7D VAL-304;
Two new missense mutations (P134T and A244V) in the coagulation factor VII gene.
Alshinawi C.; Scerri C.; Galdies R.; Aquilina A.; Felice A.E.;
Hum. Mutat. Suppl. 1:S189-S191(1998)
Cited for: VARIANTS FA7D THR-194 AND VAL-304;
Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.
Millar D.S.; Kemball-Cook G.; McVey J.H.; Tuddenham E.G.D.; Mumford A.D.; Attock G.B.; Reverter J.C.; Lanir N.; Parapia L.A.; Reynaud J.; Meili E.; von Felton A.; Martinowitz U.; Prangnell D.R.; Krawczak M.; Cooper D.N.;
Hum. Genet. 107:327-342(2000)
Cited for: VARIANTS FA7D GLN-73; GLN-79; PHE-121; PRO-125; CYS-128; TRP-139; SER-151; VAL-157; ARG-160; ARG-195; ASN-241; HIS-302; ASN-302; THR-304; VAL-304; CYS-307; MET-332; VAL-354; ILE-358; PHE-370; GLY-389; SER-391 AND GLU-435;
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.;
Haemophilia 15:267-280(2009)
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;
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.