Sequence information
Variant position: 332 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:
VVLTDHVVPLCLPERTFSER
T LAFVRFSLVSGWGQLLDRGA
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 VVLTDHVVPLCLPERTFSERT LAFVRFSLVSGWGQLLDRGA
Chimpanzee VVLTDHVVPLCLPERAFSERT LAFVRFSLVSGWGQLLDRGA
Mouse VTFTDYVVPLCLPEKSFSENT LARIRFSRVSGWGQLLDRGA
Rat VTFTDYVVPLCLPERAFSENT LASIRFSRVSGWGQLLDRGA
Bovine VALGDHVAPLCLPDPDFADQT LAFVRFSAVSGWGQLLERGV
Rabbit AALTNNVVPLCLPERNFSEST LATIRFSRVSGWGQLLYRGA
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
213 – 466
Factor VII heavy chain
Domain
213 – 452
Peptidase S1
Literature citations
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;
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.