Variant position: 45 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 YALHVKAARARDRDYRALCD VGTAISCSRVFSSRWGRGFGL
Mouse YALHVKAARARDENYRALCD VGTAISCSRVFSSRWGRGFGL
Rat YALHVKAARARNEDYRALCD VGTAISCSRVFSSRWGRGFGL
Bovine YALHVKAARARDRDYRALCD VGTAISCSRVFSSRWGRGFGL
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
35 – 35 R -> P. Nearly abolishes enzyme activity.
43 – 43 C -> AS. Reduces enzyme activity.
51 – 51 C -> AS. Reduces enzyme activity.
56 – 56 S -> P. Nearly abolishes enzyme activity.
57 – 57 S -> A. Nearly abolishes enzyme activity.
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
Rost S.; Fregin A.; Ivaskevicius V.; Conzelmann E.; Hoertnagel K.; Pelz H.-J.; Lappegard K.; Seifried E.; Scharrer I.; Tuddenham E.G.D.; Mueller C.R.; Strom T.M.; Oldenburg J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS CMRES LEU-29; ALA-45; GLY-58 AND ARG-128; VARIANT VKCFD2 TRP-98;
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.