RYR2 (ryanodine receptor 2)

Gene

• Entrez ID: 6262
• Gene name: Ryanodine receptor 2
• Gene symbol: RYR2
• Synonyms: ARVC2, ARVD2, RYR-2, RyR, VACRDS, VTSIP
• Chromosome: 1
• Chromosome location: 1q43
• Summary: This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41267517	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs112680790	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs117180147	T>C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, intron variant
rs121918597	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918598	G>A,C	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs121918599	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918600	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918601	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918602	T>C	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121918603	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918604	G>A,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918605	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918606	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs144256966	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, benign-likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs149514924	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs185237690	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs186181155	G>A	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs186906598	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs187977513	A>C	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, likely-benign	Genic downstream transcript variant, intron variant
rs188671846	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, intron variant
rs190140598	C>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs193922622	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs193922623	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922625	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922626	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs200092869	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs200105499	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs200121281	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200236750	C>T	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs200318013	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200450676	T>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs200525962	A>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200642525	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs201079716	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs201131315	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs201371633	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs201500134	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs201880756	C>A,T	Benign-likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs202015519	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs202176504	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs367992907	G>A,C	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs369512347	A>C,G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs370332882	T>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs370996795	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs371147744	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs372601642	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs373024059	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs373606009	C>T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs373721253	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs375213838	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs377465289	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs397516503	A>-	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs397516508	G>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs397516510	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs397516524	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs397516539	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs398123540	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs550691734	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs551099887	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs559154874	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs564806219	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs569571855	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic downstream transcript variant
rs587782975	A>G	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs727503396	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs727504630	TC>AT	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs727504718	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs730880187	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs730880191	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs730880196	A>C,G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs730880199	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs730880200	C>A	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs730880201	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs748937501	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs751428303	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs753175584	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs753850982	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs755065507	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs755520825	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs758500988	T>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs758785338	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs762521873	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs763374929	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs765238394	A>C,G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs768538183	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs771994461	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant
rs772984053	G>A	Uncertain-significance, pathogenic	Splice donor variant
rs774625105	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs780266883	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs786205454	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786205455	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794727676	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs794728704	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728705	T>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728707	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728708	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728710	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728711	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728713	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728715	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs794728718	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728721	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs794728740	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728743	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728744	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728745	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728746	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728748	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728750	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728751	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728753	G>A,C	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728754	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728755	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728756	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728757	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728775	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728777	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728778	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728779	A>C,G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728780	A>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728782	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728785	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728786	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728787	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728788	A>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728791	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728799	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728801	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728802	A>C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728803	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728804	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728806	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728807	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728808	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728809	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728810	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728811	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728812	AAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs794728813	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728814	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728826	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728828	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728831	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728832	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728834	CGT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs794728837	GC>AG	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs863223354	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs863223355	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs876661386	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs876661387	T>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs886037907	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs886037908	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs886038888	G>A	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs886039458	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs886042568	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs886046270	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, non coding transcript variant, coding sequence variant
rs1008224442	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs1057517873	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1060500137	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1060500142	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064793256	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064794753	T>A,G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064796516	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1085307997	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1085308008	C>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1226397753	G>A,C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1342435908	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1373714510	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1401116572	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1415931588	A>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1553263732	GAG>AAA	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553263875	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553263907	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553283030	C>T	Likely-pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs1553322494	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553335836	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553339084	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553339086	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553343100	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553426678	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1553454821	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1553531703	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1558103974	G>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1558393802	C>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1558405816	G>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1558405887	GAG>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs1558481148	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1558698334	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1572627115	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1573300872	T>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1573911397	G>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1573997412	CTT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017941	hsa-miR-335-5p	Microarray	18185580
MIRT050316	hsa-miR-25-3p	CLASH	23622248
MIRT050849	hsa-miR-17-5p	CLASH	23622248
MIRT051746	hsa-let-7c-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	ISS
GO:0002027	Process	Regulation of heart rate	IMP	11159936, 12919952, 15197150
GO:0003143	Process	Embryonic heart tube morphogenesis	ISS
GO:0003220	Process	Left ventricular cardiac muscle tissue morphogenesis	ISS
GO:0003300	Process	Cardiac muscle hypertrophy	ISS
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IBA	21873635
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IDA	17921453
GO:0005262	Function	Calcium channel activity	ISS
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005513	Process	Detection of calcium ion	IDA	10830164
GO:0005515	Function	Protein binding	IPI	10830164, 11237759, 17921453, 20195357, 23233753
GO:0005516	Function	Calmodulin binding	IDA	22067155, 26164367, 27516456
GO:0005516	Function	Calmodulin binding	IMP	19220289
GO:0005516	Function	Calmodulin binding	IPI	23040497
GO:0005516	Function	Calmodulin binding	ISS
GO:0005790	Component	Smooth endoplasmic reticulum	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	ISS
GO:0006816	Process	Calcium ion transport	IDA	17921453
GO:0006874	Process	Cellular calcium ion homeostasis	ISS
GO:0010460	Process	Positive regulation of heart rate	ISS
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IC	19220289
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS
GO:0010882	Process	Regulation of cardiac muscle contraction by calcium ion signaling	IMP	17875969
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	17569730
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP	12919952
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0014850	Process	Response to muscle activity	IMP	17875969
GO:0015278	Function	Calcium-release channel activity	IDA	17921453
GO:0015278	Function	Calcium-release channel activity	ISS
GO:0016020	Component	Membrane	IDA	12443530
GO:0016529	Component	Sarcoplasmic reticulum	IDA	10830164, 12919952
GO:0019722	Process	Calcium-mediated signaling	ISS
GO:0019899	Function	Enzyme binding	IPI	16213210
GO:0030018	Component	Z disc	IBA	21873635
GO:0030018	Component	Z disc	IDA	19131648
GO:0030018	Component	Z disc	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IBA	21873635
GO:0031000	Process	Response to caffeine	IDA	17921453
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0033017	Component	Sarcoplasmic reticulum membrane	IBA	21873635
GO:0033017	Component	Sarcoplasmic reticulum membrane	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS	19095005
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0034236	Function	Protein kinase A catalytic subunit binding	IDA	10830164
GO:0034237	Function	Protein kinase A regulatory subunit binding	IDA	10830164
GO:0034704	Component	Calcium channel complex	IBA	21873635
GO:0034704	Component	Calcium channel complex	IDA	10830164, 16213210
GO:0035584	Process	Calcium-mediated signaling using intracellular calcium source	IDA	17921453
GO:0035994	Process	Response to muscle stretch	IMP	15105296
GO:0042383	Component	Sarcolemma	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	10830164
GO:0043621	Function	Protein self-association	IEA
GO:0043924	Function	Suramin binding	IMP	19220289
GO:0044325	Function	Ion channel binding	ISS
GO:0048763	Function	Calcium-induced calcium release activity	IBA	21873635
GO:0048763	Function	Calcium-induced calcium release activity	IDA	17921453
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA	21873635
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	12443530, 17921453
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0051284	Process	Positive regulation of sequestering of calcium ion	IDA	12443530, 12919952
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	ISS
GO:0051775	Process	Response to redox state	IDA	19226252
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	11159936
GO:0060048	Process	Cardiac muscle contraction	IMP	10830164
GO:0060402	Process	Calcium ion transport into cytosol	IDA	17921453
GO:0070296	Process	Sarcoplasmic reticulum calcium ion transport	TAS	19095005
GO:0071313	Process	Cellular response to caffeine	IDA	12919952
GO:0071313	Process	Cellular response to caffeine	ISS
GO:0071872	Process	Cellular response to epinephrine stimulus	ISS
GO:0071872	Process	Cellular response to epinephrine stimulus	TAS	23507255
GO:0072599	Process	Establishment of protein localization to endoplasmic reticulum	IDA	12443530
GO:0086005	Process	Ventricular cardiac muscle cell action potential	ISS
GO:0086029	Process	Purkinje myocyte to ventricular cardiac muscle cell signaling	ISS
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	IC
GO:0097050	Process	Type B pancreatic cell apoptotic process	IMP	15044459
GO:0098735	Process	Positive regulation of the force of heart contraction	IMP	15105296
GO:0098904	Process	Regulation of AV node cell action potential	IMP	17875969
GO:0098907	Process	Regulation of SA node cell action potential	IMP	17875969
GO:0098910	Process	Regulation of atrial cardiac muscle cell action potential	IMP	17875969
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	17875969
GO:1901896	Process	Positive regulation of ATPase-coupled calcium transmembrane transporter activity	IDA	12443530
GO:1903779	Process	Regulation of cardiac conduction	TAS

Other IDs

• MIM: 180902
• HGNC: 10484
• e!Ensembl: ENSG00000198626

Protein

• UniProt ID: Q92736
• Protein name: Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Cardiac muscle ryanodine receptor) (Cardiac muscle ryanodine receptor-calcium release channel) (Type 2 ryanodine receptor)
• Protein function: Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development.
• PDB: 4JKQ, 6Y4O, 6Y4P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08709	Ins145_P3_rec	9 → 223	Inositol 1,4,5-trisphosphate/ryanodine receptor	Domain
  PF02815	MIR	226 → 406	MIR domain	Domain
  PF01365	RYDR_ITPR	453 → 648	RIH domain	Family
  PF00622	SPRY	672 → 807	SPRY domain	Family
  PF02026	RyR	862 → 952	RyR domain	Family
  PF02026	RyR	976 → 1066	RyR domain	Family
  PF00622	SPRY	1100 → 1220	SPRY domain	Family
  PF00622	SPRY	1425 → 1560	SPRY domain	Family
  PF01365	RYDR_ITPR	2123 → 2336	RIH domain	Family
  PF02026	RyR	2701 → 2791	RyR domain	Family
  PF02026	RyR	2821 → 2905	RyR domain	Family
  PF08454	RIH_assoc	3830 → 3948	RyR and IP3R Homology associated	Family
  PF06459	RR_TM4-6	4333 → 4599	Ryanodine Receptor TM 4-6	Family
  PF00520	Ion_trans	4707 → 4878	Ion transport protein	Family

• Sequence:

  MADGGEGEDEIQFLRTDDEVVLQCTATIHKEQQKLCLAAEGFGNRLCFLESTSNSKNVPP
  DLSICTFVLEQSLSVRALQEMLANTVEKSEGQVDVEKWKFMMKTAQGGGHRTLLYGHAIL
  LRHSYSGMYLCCLSTSRSSTDKLAFDVGLQEDTTGEACWWTIHPASKQRSEGEKVRVGDD
  LILVSVSSERYLHLSYGNGSLHVDAAFQQTLWSVAPISSGSEAAQGYLIGGDVLRLLHGH
  MDECLTVPSGEHGEEQRRTVHYEGGAVSVHARSLWRLETLRVAWSGSHIRWGQPFRLRHV
  TTGKYLSLMEDKNLLLMDKEKADVKSTAFTFRSSKEKLDVGVRKEVDGMGTSEIKYGDSV
  CYIQHVDTGLWLTYQSVDVKSVRMGSIQRKAIMHHEGHMDDGISLSRSQHEESRTARVIR
  STVFLFNRFIRGLDALSKKAKASTVDLPIESVSLSLQDLIGYFHPPDEHLEHEDKQNRLR
  ALKNRQNLFQEEGMINLVLECIDRLHVYSSAAHFADVAGREAGESWKSILNSLYELLAAL
  IRGNRKNCAQFSGSLDWLISRLERLEASSGILEVLHCVLVESPEALNIIKEGHIKSIISL
  LDKHGRNHKVLDVLCSLCVCHGVAVRSNQHLICDNLLPGRDLLLQTRLVNHVSSMRPNIF
  LGVSEGSAQYKKWYYELMVDHTEPFVTAEATHLRVGWASTEGYSPYPGGGEEWGGNGVGD
  DLFSYGFDGLHLWSGCIARTVSSPNQHLLRTDDVISCCLDLSAPSISFRINGQPVQGMFE
  NFNIDGLFFPVVSFSAGIKVRFLLGGRHGEFKFLPPPGYAPCYEAVLPKEKLKVEHSREY
  KQERTYTRDLLGPTVSLTQAAFTPIPVDTSQIVLPPHLERIREKLAENIHELWVMNKIEL
  GWQYGPVRDDNKRQHPCLVEFSKLPEQERNYNLQMSLETLKTLLALGCHVGISDEHAEDK
  VKKMKLPKNYQLTSGYKPAPMDLSFIKLTPSQEAMVDKLAENAHNVWARDRIRQGWTYGI
  QQDVKNRRNPRLVPYTLLDDRTKKSNKDSLREAVRTLLGYGYNLEAPDQDHAARAEVCSG
  TGERFRIFRAEKTYAVKAGRWYFEFETVTAGDMRVGWSRPGCQPDQELGSDERAFAFDGF
  KAQRWHQGNEHYGRSWQAGDVVGCMVDMNEHTMMFTLNGEILLDDSGSELAFKDFDVGDG
  FIPVCSLGVAQVGRMNFGKDVSTLKYFTICGLQEGYEPFAVNTNRDITMWLSKRLPQFLQ
  VPSNHEHIEVTRIDGTIDSSPCLKVTQKSFGSQNSNTDIMFYRLSMPIECAEVFSKTVAG
  GLPGAGLFGPKNDLEDYDADSDFEVLMKTAHGHLVPDRVDKDKEATKPEFNNHKDYAQEK
  PSRLKQRFLLRRTKPDYSTSHSARLTEDVLADDRDDYDFLMQTSTYYYSVRIFPGQEPAN
  VWVGWITSDFHQYDTGFDLDRVRTVTVTLGDEKGKVHESIKRSNCYMVCAGESMSPGQGR
  NNNGLEIGCVVDAASGLLTFIANGKELSTYYQVEPSTKLFPAVFAQATSPNVFQFELGRI
  KNVMPLSAGLFKSEHKNPVPQCPPRLHVQFLSHVLWSRMPNQFLKVDVSRISERQGWLVQ
  CLDPLQFMSLHIPEENRSVDILELTEQEELLKFHYHTLRLYSAVCALGNHRVAHALCSHV
  DEPQLLYAIENKYMPGLLRAGYYDLLIDIHLSSYATARLMMNNEYIVPMTEETKSITLFP
  DENKKHGLPGIGLSTSLRPRMQFSSPSFVSISNECYQYSPEFPLDILKSKTIQMLTEAVK
  EGSLHARDPVGGTTEFLFVPLIKLFYTLLIMGIFHNEDLKHILQLIEPSVFKEAATPEEE
  SDTLEKELSVDDAKLQGAGEEEAKGGKRPKEGLLQMKLPEPVKLQMCLLLQYLCDCQVRH
  RIEAIVAFSDDFVAKLQDNQRFRYNEVMQALNMSAALTARKTKEFRSPPQEQINMLLNFK
  DDKSECPCPEEIRDQLLDFHEDLMTHCGIELDEDGSLDGNSDLTIRGRLLSLVEKVTYLK
  KKQAEKPVESDSKKSSTLQQLISETMVRWAQESVIEDPELVRAMFVLLHRQYDGIGGLVR
  ALPKTYTINGVSVEDTINLLASLGQIRSLLSVRMGKEEEKLMIRGLGDIMNNKVFYQHPN
  LMRALGMHETVMEVMVNVLGGGESKEITFPKMVANCCRFLCYFCRISRQNQKAMFDHLSY
  LLENSSVGLASPAMRGSTPLDVAAASVMDNNELALALREPDLEKVVRYLAGCGLQSCQML
  VSKGYPDIGWNPVEGERYLDFLRFAVFCNGESVEENANVVVRLLIRRPECFGPALRGEGG
  NGLLAAMEEAIKIAEDPSRDGPSPNSGSSKTLDTEEEEDDTIHMGNAIMTFYSALIDLLG
  RCAPEMHLIHAGKGEAIRIRSILRSLIPLGDLVGVISIAFQMPTIAKDGNVVEPDMSAGF
  CPDHKAAMVLFLDRVYGIEVQDFLLHLLEVGFLPDLRAAASLDTAALSATDMALALNRYL
  CTAVLPLLTRCAPLFAGTEHHASLIDSLLHTVYRLSKGCSLTKAQRDSIEVCLLSICGQL
  RPSMMQHLLRRLVFDVPLLNEHAKMPLKLLTNHYERCWKYYCLPGGWGNFGAASEEELHL
  SRKLFWGIFDALSQKKYEQELFKLALPCLSAVAGALPPDYMESNYVSMMEKQSSMDSEGN
  FNPQPVDTSNITIPEKLEYFINKYAEHSHDKWSMDKLANGWIYGEIYSDSSKVQPLMKPY
  KLLSEKEKEIYRWPIKESLKTMLAWGWRIERTREGDSMALYNRTRRISQTSQVSVDAAHG
  YSPRAIDMSNVTLSRDLHAMAEMMAENYHNIWAKKKKMELESKGGGNHPLLVPYDTLTAK
  EKAKDREKAQDILKFLQINGYAVSRGFKDLELDTPSIEKRFAYSFLQQLIRYVDEAHQYI
  LEFDGGSRGKGEHFPYEQEIKFFAKVVLPLIDQYFKNHRLYFLSAASRPLCSGGHASNKE
  KEMVTSLFCKLGVLVRHRISLFGNDATSIVNCLHILGQTLDARTVMKTGLESVKSALRAF
  LDNAAEDLEKTMENLKQGQFTHTRNQPKGVTQIINYTTVALLPMLSSLFEHIGQHQFGED
  LILEDVQVSCYRILTSLYALGTSKSIYVERQRSALGECLAAFAGAFPVAFLETHLDKHNI
  YSIYNTKSSRERAALSLPTNVEDVCPNIPSLEKLMEEIVELAESGIRYTQMPHVMEVILP
  MLCSYMSRWWEHGPENNPERAEMCCTALNSEHMNTLLGNILKIIYNNLGIDEGAWMKRLA
  VFSQPIINKVKPQLLKTHFLPLMEKLKKKAATVVSEEDHLKAEARGDMSEAELLILDEFT
  TLARDLYAFYPLLIRFVDYNRAKWLKEPNPEAEELFRMVAEVFIYWSKSHNFKREEQNFV
  VQNEINNMSFLITDTKSKMSKAAVSDQERKKMKRKGDRYSMQTSLIVAALKRLLPIGLNI
  CAPGDQELIALAKNRFSLKDTEDEVRDIIRSNIHLQGKLEDPAIRWQMALYKDLPNRTDD
  TSDPEKTVERVLDIANVLFHLEQKSKRVGRRHYCLVEHPQRSKKAVWHKLLSKQRKRAVV
  ACFRMAPLYNLPRHRAVNLFLQGYEKSWIETEEHYFEDKLIEDLAKPGAEPPEEDEGTKR
  VDPLHQLILLFSRTALTEKCKLEEDFLYMAYADIMAKSCHDEEDDDGEEEVKSFEEKEME
  KQKLLYQQARLHDRGAAEMVLQTISASKGETGPMVAATLKLGIAILNGGNSTVQQKMLDY
  LKEKKDVGFFQSLAGLMQSCSVLDLNAFERQNKAEGLGMVTEEGSGEKVLQDDEFTCDLF
  RFLQLLCEGHNSDFQNYLRTQTGNNTTVNIIISTVDYLLRVQESISDFYWYYSGKDVIDE
  QGQRNFSKAIQVAKQVFNTLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMQMKLSQ
  DSSQIELLKELMDLQKDMVVMLLSMLEGNVVNGTIGKQMVDMLVESSNNVEMILKFFDMF
  LKLKDLTSSDTFKEYDPDGKGVISKRDFHKAMESHKHYTQSETEFLLSCAETDENETLDY
  EEFVKRFHEPAKDIGFNVAVLLTNLSEHMPNDTRLQTFLELAESVLNYFQPFLGRIEIMG
  SAKRIERVYFEISESSRTQWEKPQVKESKRQFIFDVVNEGGEKEKMELFVNFCEDTIFEM
  QLAAQISESDLNERSANKEESEKERPEEQGPRMAFFSILTVRSALFALRYNILTLMRMLS
  LKSLKKQMKKVKKMTVKDMVTAFFSSYWSIFMTLLHFVASVFRGFFRIICSLLLGGSLVE
  GAKKIKVAELLANMPDPTQDEVRGDGEEGERKPLEAALPSEDLTDLKELTEESDLLSDIF
  GLDLKREGGQYKLIPHNPNAGLSDLMSNPVPMPEVQEKFQEQKAKEEEKEEKEETKSEPE
  KAEGEDGEKEEKAKEDKGKQKLRQLHTHRYGEPEVPESAFWKKIIAYQQKLLNYFARNFY
  NMRMLALFVAFAINFILLFYKVSTSSVVEGKELPTRSSSENAKVTSLDSSSHRIIAVHYV
  LEESSGYMEPTLRILAILHTVISFFCIIGYYCLKVPLVIFKREKEVARKLEFDGLYITEQ
  PSEDDIKGQWDRLVINTQSFPNNYWDKFVKRKVMDKYGEFYGRDRISELLGMDKAALDFS
  DAREKKKPKKDSSLSAVLNSIDVKYQMWKLGVVFTDNSFLYLAWYMTMSVLGHYNNFFFA
  AHLLDIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVVVYLYTVVAFNFFRKFYNKSEDGD
  TPDMKCDDMLTCYMFHMYVGVRAGGGIGDEIEDPAGDEYEIYRIIFDITFFFFVIVILLA
  IIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGNDYFDTVPHGFETHTLQEHNLANYLF
  FLMYLINKDETEHTGQESYVWKMYQERCWEFFPAGDCFRKQYEDQLN

• Sequence length: 4967