Variant position: 4124 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 NLSEHMPNDTRLQTFLELAE SVLNYFQPFLGRIEIMGSAKR
Mouse NLSEHMPNDTRLQTFLELAE SVLNYFQPFLGRIEIMGSAKR
Rat NLSEHMPNDTRLQTFLELAE SVLNYFQPFLGRIEIMGSAKR
Rabbit NLSEHMPNDTRLQTFLELAE SVLNYFQPFLGRIEIMGSAKR
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
4108 – 4108 H -> N. Changed ryanodine-sensitive calcium-release channel activity characterized by increased sensitivity to cytosolic calcium activation.
4108 – 4108 H -> Q. Changed ryanodine-sensitive calcium-release channel activity characterized by increased sensitivity to cytosolic calcium activation.
Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.
Tester D.J.; Kopplin L.J.; Will M.L.; Ackerman M.J.;
Heart Rhythm 2:1099-1105(2005)
Cited for: VARIANTS CPVT1 GLN-176; LEU-414; PHE-419; ALA-466; THR-2403; PHE-3800; THR-4124; CYS-4499; THR-4510; THR-4556; VAL-4848 AND GLN-4959;
Enhanced cytosolic Ca2+ activation underlies a common defect of central domain cardiac ryanodine receptor mutations linked to arrhythmias.
Xiao Z.; Guo W.; Sun B.; Hunt D.J.; Wei J.; Liu Y.; Wang Y.; Wang R.; Jones P.P.; Back T.G.; Chen S.R.;
J. Biol. Chem. 291:24528-24537(2016)
Cited for: CHARACTERIZATION OF VARIANTS CVPT1 SER-3946; THR-4124; PRO-4158 AND PRO-4159; MUTAGENESIS OF GLY-3946; MET-3978 AND HIS-4108; FUNCTION;
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.