Variant position: 88 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 251 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 ALLVYRVFRNEAKRTTKVLH GLLHIFALVIALVGLVAVFDY
Mouse ALLVYRVFRREAKRTTKILH GLLHVFAFIIALVGLVAVFDY
Pig ALLVYRVFRNEAKRTTKILH GLLHVLAFVIALVGLVAVFDY
Bovine ALLVYRVFRNEAKRTTKVLH GLLHVFAFVIALVGLVAVFEH
Sheep ALLVYRVFRNEAKRTTKVLH GLLHVFAFVIALVGLVAVFEH
Xenopus laevis ALLVYRVFRHETKRSTKILH GVLHIMALVISLVGVIAVFQY
Caenorhabditis elegans ALLVYRVFRNERKKFSKTLH VILHSCVLVFMLMALKAVFDY
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 – 251 Cytochrome b561
86 – 106 Helical
19 – 220 Cytochrome b561
87 – 87 Iron (heme axial ligand)
91 – 91 Iron (heme axial ligand)
Mutations in CYB561 causing a novel orthostatic hypotension syndrome.
van den Berg M.P.; Almomani R.; Biaggioni I.; van Faassen M.; van der Harst P.; Sillje H.H.W.; Mateo Leach I.; Hemmelder M.H.; Navis G.; Luijckx G.J.; de Brouwer A.P.M.; Venselaar H.; Verbeek M.M.; van der Zwaag P.A.; Jongbloed J.D.H.; van Tintelen J.P.; Wevers R.A.; Kema I.P.;
Circ. Res. 122:846-854(2018)
Cited for: INVOLVEMENT IN ORTHYP2; VARIANTS ORTHYP2 44-TRP--GLN-251 DEL AND ARG-88; TISSUE SPECIFICITY;
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.