Variant position: 186 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 IVGCIIDAFIIGAVMAKMAK PKKRNETLVFSHNAVIAMRDG
Rhesus macaque IVGCIIDAFIIGAVMAKMAK PKKRNETLVFSHNAVIAMRDG
Mouse IVGCIIDAFIIGAVMAKMAK PKKRNETLVFSHNAVIAMRDG
Rat IVGCIIDAFIIGAVMAKMAK PKKRNETLVFSHNAVIAMRDG
Pig IVGCIIDAFIIGAVMAKMAK PKKRNETLVFSHNAVIAMRDG
Bovine IVGCIIDAFIIGAVMAKMAK PKKRNETLVFSHNAVIAMRDG
Rabbit IVGCIIDAFIIGAVMAKMAK PKKRNETLVFSHNAVIAMRDG
Chicken IVGCIIDAFIIGAVMAKMAK PKKRNETLVFSHNAVVAMRDG
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
172 – 172 Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
Tristani-Firouzi M.; Jensen J.L.; Donaldson M.R.; Sansone V.; Meola G.; Hahn A.; Bendahhou S.; Kwiecinski H.; Fidzianska A.; Plaster N.; Fu Y.-H.; Ptacek L.J.; Tawil R.;
J. Clin. Invest. 110:381-388(2002)
Cited for: VARIANTS LQT7 LEU-186; HIS-216 AND MET-302;
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