Variant position: 71 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 163 The length of the canonical sequence.
Location on the sequence:
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 CSRVFSSRWGRGFGLVEHVL GQDSILNQSNSIFGCIFYTLQ
Mouse CSRVFSSRWGRGFGLVEHML GADSVLNQSNSIFGCLFYTLQ
Rat CSRVFSSRWGRGFGLVEHVL GADSILNQSNSIFGCMFYTIQ
Bovine CSRVFSSRWGRGFGLVEHVL GKDSILNQSNSIFGCIFYTLQ
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
1 – 163 Vitamin K epoxide reductase complex subunit 1
30 – 74 Cytoplasmic
59 – 163 WGRGFGLVEHVLGQDSILNQSNSIFGCIFYTLQLLLGCLRTRWASVLMLLSSLVSLAGSVYLAWILFFVLYDFCIVCITTYAINVSLMWLSFRKVQEPQGKAKRH -> LPADTLGLCPDAAELPGVSRWFCLPGLDPVLRAL. In isoform 3.
51 – 51 C -> AS. Reduces enzyme activity.
56 – 56 S -> P. Nearly abolishes enzyme activity.
57 – 57 S -> A. Nearly abolishes enzyme activity.
85 – 85 C -> A. Reduces enzyme activity by about 25%.
85 – 85 C -> S. Reduces enzyme activity by about 75%.
Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment.
Watzka M.; Geisen C.; Bevans C.G.; Sittinger K.; Spohn G.; Rost S.; Seifried E.; Muller C.R.; Oldenburg J.;
J. Thromb. Haemost. 9:109-118(2011)
Cited for: VARIANTS CMRES THR-26; LEU-29; GLY-36; TYR-36; TRP-52; PHE-56; LEU-59; CYS-59; GLY-66; MET-66; ALA-71; SER-77; TYR-77; ASN-123 AND HIS-139;
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.