Sequence information
Variant position: 364 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:
WGQLLDRGATALELMVLNVP
R LMTQDCLQQSRKVGDSPNIT
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 WGQLLDRGATALELMVLNVPR LMTQDCLQQSRKVGDSPNIT
Chimpanzee WGQLLDRGATALELMVLNVPR LMTQDCLQQSRKVGDSPNIT
Mouse WGQLLDRGATALELMSIEVPR LMTQDCLEHAKHSSNTPKIT
Rat WGQLLDRGATALELMVIEVPR LMTQDCLEHAKHSANTPRIT
Bovine WGQLLERGVTARKLMVVLVPR LLTQDCLQQSRQRPGGPVVT
Rabbit WGQLLYRGALARELMAIDVPR LMTQDCVEQSEHKPGSPEVT
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;
Purification and characterization of factor VII 304-Gln: a variant molecule with reduced activity isolated from a clinically unaffected male.
O'Brien D.P.; Gale K.M.; Anderson J.S.; McVey J.H.; Miller G.J.; Meade T.W.; Tuddenham E.G.D.;
Blood 78:132-140(1991)
Cited for: VARIANT FA7D GLN-364;
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;
Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.
Takamiya O.; Kemball-Cook G.; Martin D.M.A.; Cooper D.N.; von Felten A.; Meili E.; Hahn I.; Prangnell D.R.; Lumley H.; Tuddenham E.G.D.; McVey J.H.;
Hum. Mol. Genet. 2:1355-1359(1993)
Cited for: VARIANTS FA7D GLN-139; TRP-139; ARG-160; GLU-197 AND GLN-364;
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.;
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.