Variant position: 218 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 427 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 NAVIAMRDGKLCLMWRVGNL RKSHLVEAHVRAQLLKSRITS
Rhesus macaque NAVIAMRDGKLCLMWRVGNL RKSHLVEAHVRAQLLKSRITS
Mouse NAVIAMRDGKLCLMWRVGNL RKSHLVEAHVRAQLLKSRITS
Rat NAVIAMRDGKLCLMWRVGNL RKSHLVEAHVRAQLLKSRITS
Pig NAVIAMRDGKLCLMWRVGNL RKSHLVEAHVRAQLLKSRITS
Bovine NAVIAMRDGKLCLMWRVGNL RKSHLVEAHVRAQLLKSRITS
Rabbit NAVIAMRDGKLCLMWRVGNL RKSHLVEAHVRAQLLKSRITS
Chicken NAVVAMRDGKLCLMWRVGNL RKSHLVEAHVRAQLLKSRITS
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
2 – 427 Inward rectifier potassium channel 2
179 – 427 Cytoplasmic
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
Plaster N.M.; Tawil R.; Tristani-Firouzi M.; Canun S.; Bendahhou S.; Tsunoda A.; Donaldson M.R.; Iannaccone S.T.; Brunt E.; Barohn R.; Clark J.; Deymeer F.; George A.L. Jr.; Fish F.A.; Hahn A.; Nitu A.; Ozdemir C.; Serdaroglu P.; Subramony S.H.; Wolfe G.; Fu Y.-H.; Ptacek L.J.;
Cited for: CHARACTERIZATION OF VARIANTS LQT7 VAL-71 AND TRP-218; VARIANTS LQT7 VAL-300; 95-SER--PHE-98 DEL AND SER-314-315-TYR DEL;
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