Variant position: 2403 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 HMGNAIMTFYSALIDLLGRC APEMHLIHAGKGEAIRIRSIL
Mouse HMGNAIMTFYAALIDLLGRC APEMHLIHAGKGEAIRIRSIL
Rat HMGNAIMTFYAALIDLLGRC APEMHLIHAGKGEAIRIRSIL
Rabbit HMGNAIMTFYAALIDLLGRC APEMHLIHAGKGEAIRIRSIL
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
853 – 2925 4 X approximate repeats
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
Choi G.; Kopplin L.J.; Tester D.J.; Will M.L.; Haglund C.M.; Ackerman M.J.;
Cited for: VARIANTS CPVT1 SER-164; LEU-414; PHE-419; THR-2403; CYS-4499; THR-4510; ARG-4671 AND VAL-4848;
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;
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.