Sequence information
Variant position: 194 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:
CHEGYSLLADGVSCTPTVEY
P CGKIPILEKRNASKPQGRIV
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 CHEGYSLLADGVSCTPTVEYP CGKIPILEKRNASKPQGRIV
Chimpanzee CHEGYSLLADGVSCTPTVEYP CGKIPILEKRNASKPQGRIV
Mouse CHEDYTLQPDEVSCKPKVEYP CGRIPVVEKRNSSSRQGRIV
Rat CHEDYVLQPDEVSCKPKVEYP CGRIPVVEKRNFSRPQGRIV
Bovine CHEGYALQADGVSCAPTVEYP CGKIPVLEKRNGSKPQGRIV
Rabbit CHEGYTLLPNGVSCTPTVDYP CGKVPALEKRGASNPQGRIV
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.
Type Positions Description
Chain
61 – 212
Factor VII light chain
Glycosylation
205 – 205
N-linked (GlcNAc...) asparagine
Literature citations
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;
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.