Variant position: 29 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4967 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 DEIQFLRTDDEVVLQCTATI HKEQQKLCLAAEGFGNRLCFL
Mouse DEIQFLRTDDEVVLQCTATI HKEQQKLCLAAEGFGNRLCFL
Rat DEIQFLRTDDEVVLQCTATI HKEQQKLCLAAEGFGNRLCFL
Rabbit DEIQFLRTDDEVVLQCTATI HKEQQKLCLAAEGFGNRLCFL
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 – 4967 Ryanodine receptor 2
1 – 4281 Cytoplasmic
Short-coupled polymorphic ventricular tachycardia at rest linked to a novel ryanodine receptor (RyR2) mutation: leaky RyR2 channels under non-stress conditions.
Cheung J.W.; Meli A.C.; Xie W.; Mittal S.; Reiken S.; Wronska A.; Xu L.; Steinberg J.S.; Markowitz S.M.; Iwai S.; Lacampagne A.; Lerman B.B.; Marks A.R.;
Int. J. Cardiol. 180:228-236(2015)
Cited for: VARIANT ASP-29;
The H29D nutation does not enhance cytosolic Ca2+ activation of the cardiac ryanodine receptor.
Xiao Z.; Guo W.; Yuen S.M.; Wang R.; Zhang L.; Van Petegem F.; Chen S.R.;
PLoS ONE 10:E0139058-E0139058(2015)
Cited for: CHARACTERIZATION OF VARIANT ASP-29;
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