Sequence information
Variant position: 370 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:
RGATALELMVLNVPRLMTQD
C LQQSRKVGDSPNITEYMFCA
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 RGATALELMVLNVPRLMTQDC LQQSRKVGDSPNITEYMFCA
Chimpanzee RGATALELMVLNVPRLMTQDC LQQSRKVGDSPNITEYMFCA
Mouse RGATALELMSIEVPRLMTQDC LEHAKHSSNTPKITENMFCA
Rat RGATALELMVIEVPRLMTQDC LEHAKHSANTPRITENMFCA
Bovine RGVTARKLMVVLVPRLLTQDC LQQSRQRPGGPVVTDNMFCA
Rabbit RGALARELMAIDVPRLMTQDC VEQSEHKPGSPEVTGNMFCA
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
Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII.
Bernardi F.; Liney D.L.; Patracchini P.; Gemmati D.; Legnani C.; Arcieri P.; Pinotti M.; Redaelli R.; Ballerini G.; Pemberton S.; Wacey A.I.; Mariani G.; Tuddenham E.G.D.; Marchetti G.;
Br. J. Haematol. 86:610-618(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 354-412; VARIANTS FA7D ILE-358; GLN-364; PHE-370 AND ARG-402; VARIANT GLN-413;
Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).
Marchetti G.; Patracchini P.; Gemmati D.; Derosa V.; Pinotti M.; Rodorigo G.; Casonato A.; Girolami A.; Bernardi F.;
Hum. Genet. 89:497-502(1992)
Cited for: VARIANTS FA7D GLN-364 AND PHE-370;
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;
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.;
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.