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UniProtKB/Swiss-Prot P08709: Variant p.Cys370Phe

Coagulation factor VII
Gene: F7
Variant information

Variant position:  370
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Cysteine (C) to Phenylalanine (F) at position 370 (C370F, p.Cys370Phe).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (C) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Factor VII deficiency (FA7D) [MIM:227500]: A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels. {ECO:0000269|PubMed:10862079, ECO:0000269|PubMed:11091194, ECO:0000269|PubMed:11129332, ECO:0000269|PubMed:12472587, ECO:0000269|PubMed:14717781, ECO:0000269|PubMed:1634227, ECO:0000269|PubMed:18976247, ECO:0000269|PubMed:19432927, ECO:0000269|PubMed:19751712, ECO:0000269|PubMed:2070047, ECO:0000269|PubMed:21206266, ECO:0000269|PubMed:21372693, ECO:0000269|PubMed:26761581, ECO:0000269|PubMed:7974346, ECO:0000269|PubMed:7981691, ECO:0000269|PubMed:8043443, ECO:0000269|PubMed:8204879, ECO:0000269|PubMed:8242057, ECO:0000269|PubMed:8364544, ECO:0000269|PubMed:8652821, ECO:0000269|PubMed:8844208, ECO:0000269|PubMed:8883260, ECO:0000269|PubMed:8940045, ECO:0000269|PubMed:9414278, ECO:0000269|PubMed:9452082, ECO:0000269|PubMed:9576180}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In FA7D.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



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                         RGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCA

Chimpanzee                    RGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCA

Mouse                         RGATALELMSIEVPRLMTQDCLEHAKHSSNTPKITENMFCA

Rat                           RGATALELMVIEVPRLMTQDCLEHAKHSANTPRITENMFCA

Bovine                        RGVTARKLMVVLVPRLLTQDCLQQSRQRPGGPVVTDNMFCA

Rabbit                        RGALARELMAIDVPRLMTQDCVEQSEHKPGSPEVTGNMFCA

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.

TypePositionsDescription
Chain 213 – 466 Factor VII heavy chain
Domain 213 – 452 Peptidase S1
Glycosylation 382 – 382 N-linked (GlcNAc...) asparagine
Disulfide bond 370 – 389
Helix 367 – 373


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.