O14958
PR
Gene name |
CASQ2 |
Protein name |
Calsequestrin-2 |
Names |
Calsequestrin, cardiac muscle isoform |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:845 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for O14958
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2VAF | X-ray | 380 A | A | 22-399 | PDB |
| 6OWV | X-ray | 188 A | A | 18-399 | PDB |
| 6OWW | X-ray | 384 A | A/B/C/D/E/F/G/H | 18-399 | PDB |
| 7F05 | X-ray | 230 A | A/B/C/D | 20-399 | PDB |
| AF-O14958-F1 | Predicted | AlphaFoldDB |
393 variants for O14958
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001796094 rs1553197939 RCV000523914 |
1 | M>T | Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001170447 rs1649207434 |
2 | K>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553197935 RCV002526099 CA341767430 |
8 | I>T | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000033941 RCV002482945 rs397507555 |
21 | E>missing | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003153870 CA1024003 RCV002415954 RCV000825714 rs773237428 |
27 | T>I | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002489651 rs1230753325 RCV002554403 CA341767299 |
28 | Y>C | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000033942 RCV002496508 rs397507556 CA301925 RCV000170900 RCV002513332 |
33 | R>* | Catecholaminergic polymorphic ventricular tachycardia 1 Variant assessed as Somatic; 0.0 impact. Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002561097 rs749547712 |
33 | R>L | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_055234 rs749547712 RCV002505654 CA1023999 RCV002554554 |
33 | R>Q | Catecholaminergic polymorphic ventricular tachycardia 1 Variant assessed as Somatic; 0.0 impact. CPVT2; reduces calcium-dependent dimerization [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000781194 rs1280686043 CA341767261 RCV002536870 |
34 | V>G | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002529041 rs756636650 RCV000579287 CA341767232 |
39 | E>* | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA301928 RCV002967599 rs756636650 |
39 | E>K | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000496259 RCV002515232 CA301942 RCV002336401 rs786205797 RCV000170912 |
40 | K>E | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001700264 CA341767168 rs1553197917 RCV002531916 RCV000625057 |
47 | K>N | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002552490 RCV002400235 CA29625172 rs151168851 RCV002489565 RCV001759739 |
53 | C>F | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1436844070 RCV000618128 CA341767114 RCV002526063 RCV000497364 |
55 | Y>C | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001589123 RCV000213554 CA1023993 RCV002408931 RCV001102445 rs764732977 RCV002517533 |
58 | E>V | Catecholaminergic polymorphic ventricular tachycardia 1 Variant assessed as Somatic; 0.0 impact. Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA29625145 rs866858282 RCV002529910 |
59 | P>S | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs4074536 RCV000604412 VAR_023692 RCV002513465 CA133700 RCV003125855 RCV000247814 RCV001711119 RCV000037136 |
66 | T>A | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 2 no effect on calcium-binding and calcium-dependent dimerization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000800247 rs761862949 RCV003166189 CA1023989 |
69 | Q>E | Catecholaminergic polymorphic ventricular tachycardia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000170914 rs786205799 RCV002492705 |
71 | Q>missing | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1649199632 RCV003104029 |
76 | V>A | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_023693 RCV000625056 rs10801999 RCV002513467 RCV000037138 RCV000253496 CA282349 RCV000768705 |
76 | V>M | Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 2 increases dimerization in the absence of calcium [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000618067 CA1023983 rs781778467 RCV002531804 |
77 | L>F | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002448581 RCV002490925 RCV002528289 CA1023964 RCV000523944 rs771298193 |
79 | L>F | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003106201 rs1648331024 |
81 | A>V | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1274422352 RCV002553379 |
84 | L>F | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001256930 rs750159744 RCV002568756 RCV002436977 CA1023958 |
97 | K>E | Catecholaminergic polymorphic ventricular tachycardia 1 Conduction disorder of the heart [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA29606348 RCV002564080 rs946911897 RCV002499412 |
109 | D>V | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002481702 RCV003114648 RCV000523736 rs1358515759 |
109 | D>missing | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513117 rs786205106 RCV000170902 RCV000019177 |
113 | S>missing | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000515172 RCV000150229 RCV000496534 CA175375 RCV002453480 rs199750975 RCV000170907 RCV002514885 |
113 | S>N | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1199669 RCV002518328 CA1023934 rs570840019 RCV003165613 |
121 | R>C | Catecholaminergic polymorphic ventricular tachycardia 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA175371 RCV000766686 RCV002514883 RCV000150227 RCV000515273 RCV000496815 rs727502908 RCV000768704 RCV002345460 |
126 | D>H | Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA341764414 RCV000768703 rs1557798151 RCV002352276 |
128 | E>K | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1023928 rs762328417 RCV002562537 RCV002504281 |
137 | F>L | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16609858 RCV002525576 rs1060502165 |
149 | I>S | Catecholaminergic polymorphic ventricular tachycardia 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002561780 rs1648034747 |
156 | Q>* | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1648034165 RCV002561137 |
156 | Q>missing | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002341672 RCV002545146 rs779063209 CA1023903 |
157 | A>P | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002537337 rs375598471 CA1023900 |
159 | E>* | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001093859 RCV003150158 RCV002522052 rs375598471 RCV000413265 RCV002338869 RCV000763715 CA1023899 COSM177354 |
159 | E>K | Catecholaminergic polymorphic ventricular tachycardia 1 Variant assessed as Somatic; 0.0 impact. Cardiomyopathy large_intestine Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002568540 rs750680032 CA1023898 RCV002339666 |
160 | R>C | Catecholaminergic polymorphic ventricular tachycardia 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000150226 RCV000766919 CA175368 RCV002336296 rs372283956 RCV002514882 |
160 | R>H | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA301891 RCV002515228 rs146333579 RCV000170886 RCV002336398 |
161 | I>L | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000037143 RCV003103723 RCV000244068 rs146333579 RCV001719739 CA133706 |
161 | I>V | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002529912 RCV002483824 RCV002343258 rs72554062 CA1023895 |
164 | Y>C | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000019178 CA258048 VAR_044118 rs121434550 |
167 | L>H | Catecholaminergic polymorphic ventricular tachycardia 2 CPVT2; alters protein folding; reduces calcium-binding; reduces calcium-dependent oligomerization; decreases sarcoplasmic reticulum Ca(2+) storing capacity; reduces the amplitude of I(Ca)-induced Ca(2+) transients; reduces spontaneous Ca(2+) sparks in permeabilized myocytes [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000170887 CA301894 RCV002336399 rs148057999 RCV002485070 RCV002517643 RCV002281993 |
168 | I>T | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002515229 rs786205790 RCV002485071 RCV000170888 CA301897 RCV002336400 |
173 | S>I | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001170445 rs1648031031 |
178 | Y>H | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_076546 rs886039816 RCV000256223 CA10588840 |
180 | K>R | Catecholaminergic polymorphic ventricular tachycardia 2 CPVT2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs745879915 RCV002533641 CA1023870 |
181 | A>P | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000208054 rs763955301 RCV002485356 RCV003165506 |
182 | F>missing | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000723880 RCV002516017 RCV000617394 RCV000415704 RCV000150224 CA175364 RCV000999608 COSM3385060 RCV000852589 rs146664754 RCV000171562 |
189 | F>L | Catecholaminergic polymorphic ventricular tachycardia 1 Polymorphic ventricular tachycardia Cardiomyopathy pancreas Sudden unexplained death Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs755558916 RCV002547072 CA1023861 |
194 | K>T | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000486661 RCV003147480 RCV002526573 CA1023833 COSM1332988 rs758082383 RCV002481514 |
205 | K>N | Catecholaminergic polymorphic ventricular tachycardia 1 Variant assessed as Somatic; 0.0 impact. large_intestine Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs377762175 CA301901 RCV000170891 RCV002492703 RCV002362869 |
211 | M>I | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002366199 RCV001824951 CA1023825 RCV003145572 RCV002546119 rs373227317 |
217 | Y>C | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001098684 RCV002365798 CA1023822 rs774546117 RCV002556008 |
225 | I>V | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749796276 RCV002485753 CA341768715 RCV002533700 RCV002360817 |
231 | P>S | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000430947 CA213554 RCV002513239 RCV000037146 RCV001841524 RCV000768702 RCV000625053 VAR_067036 rs28730716 RCV002490410 RCV000217394 RCV000243545 |
244 | H>R | Cardiac arrhythmia Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000217394 rs142036299 RCV000222224 RCV000249385 RCV001001284 CA1023814 |
244 | H>Y | Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1023813 RCV001065165 rs754834466 |
245 | Q>* | Catecholaminergic polymorphic ventricular tachycardia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1023768 rs768261470 RCV002547017 |
247 | P>R | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002388254 RCV002532267 CA1023766 RCV002485675 rs151115064 |
250 | R>C | Catecholaminergic polymorphic ventricular tachycardia 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002558708 rs781113955 CA1023763 RCV002393380 RCV001170442 |
251 | R>C | Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001098683 CA236674 RCV002515248 RCV003165355 RCV002492711 rs200265771 RCV000171634 COSM894356 |
251 | R>H | Catecholaminergic polymorphic ventricular tachycardia 1 Variant assessed as Somatic; 0.0 impact. endometrium Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA175361 rs199571249 RCV002514880 RCV000150222 RCV002505141 |
253 | R>H | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002526100 CA341768566 rs199571249 |
253 | R>L | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002527048 rs776874142 RCV000497882 CA1023758 |
261 | W>* | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003103739 rs762381137 CA301904 RCV000170892 |
270 | I>T | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA341766905 rs1471576368 RCV002537226 |
286 | E>* | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs368165922 RCV002442479 CA1023713 RCV002533472 RCV002485695 |
287 | I>N | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002517534 RCV001093808 RCV002372226 CA1023708 RCV000213801 rs200643387 |
292 | A>S | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs377691566 RCV002515230 CA301907 RCV000170893 |
293 | R>P | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002561701 CA1023706 rs201306936 RCV002484127 |
293 | R>W | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA29614663 RCV002534409 rs923161859 |
298 | N>K | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000618889 RCV002531789 CA1023702 RCV002499002 rs548536938 RCV001591383 |
298 | N>S | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs376147306 CA1023700 RCV001098682 RCV002531749 RCV000619631 |
300 | D>N | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000019176 rs121434549 CA341468 VAR_016075 |
307 | D>H | Catecholaminergic polymorphic ventricular tachycardia 2 CPVT2; reduces calcium-binding; impairs calcium-dependent oligomerization; causes 50% decrease in calcium-dependent binding to TRDN; causes 50% decrease in calcium-dependent binding to ASPH [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000618569 RCV002516550 RCV002492704 CA301936 RCV000170910 rs139228801 |
308 | P>L | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000150221 COSM3975922 RCV002516016 CA175358 rs139228801 |
308 | P>Q | lung Catecholaminergic polymorphic ventricular tachycardia 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs72703607 RCV000366713 CA1023692 |
309 | D>G | Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1023693 RCV002505531 rs72703607 RCV001002206 |
309 | D>V | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001096938 RCV000150220 RCV000617384 RCV001170441 RCV002516015 RCV000766689 rs141314684 COSM3417917 CA175355 |
310 | D>N | Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy large_intestine Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1023690 rs769960615 RCV002375260 RCV002567924 |
311 | F>L | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002538488 rs1654321088 |
313 | L>V | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002502159 CA1023667 RCV000618388 RCV002522051 COSM423538 rs771188512 RCV000994079 RCV001093753 |
315 | V>I | Catecholaminergic polymorphic ventricular tachycardia 1 Variant assessed as Somatic; 0.0 impact. breast Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002546236 rs1654255083 |
320 | K>T | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002515231 RCV002478536 CA301910 RCV000170895 RCV000620988 rs28730713 RCV001096937 RCV001170440 |
329 | P>S | Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10607448 rs886045160 RCV000351661 RCV002494904 |
336 | V>I | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002516551 rs1553191909 |
340 | D>* | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002525575 RCV002402269 rs372865933 CA1023625 |
349 | D>V | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200899037 RCV002515247 CA236671 COSM1667858 RCV001093911 RCV000171633 RCV000768698 RCV003165354 |
351 | D>G | ovary Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs267597944 RCV002739005 CA1023623 |
351 | D>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002547009 rs1193520667 CA341766388 RCV003145593 RCV002431967 |
363 | E>K | Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002447390 CA1023616 RCV002546829 rs762153545 |
366 | L>P | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA341766313 rs886045158 RCV002529911 |
374 | D>G | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10607603 RCV000350381 rs886045159 |
374 | D>N | Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000281359 CA10607599 rs886045158 |
374 | D>V | Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002531871 RCV000622912 rs202241842 |
376 | D>missing | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA175352 RCV000618959 rs148824162 COSM1293151 RCV002514879 RCV000150219 |
377 | E>D | cervix Catecholaminergic polymorphic ventricular tachycardia 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV002323959 RCV003153702 rs765914619 |
377 | E>missing | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002517467 CA1023611 RCV000219232 rs150486780 |
378 | D>E | Catecholaminergic polymorphic ventricular tachycardia 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP |
|
CA341766280 rs776130201 RCV002543708 CA341766279 |
379 | D>E | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
RCV001799068 CA29605868 RCV003153996 rs940257382 |
379 | D>V | Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002513461 RCV000037132 CA133693 rs397516640 |
383 | D>G | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001170439 RCV002453522 RCV002505176 RCV000152931 rs72554069 RCV002515018 RCV000156394 |
383 | D>missing | Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513460 rs72554069 RCV002453310 RCV000375569 RCV000769724 RCV000037131 |
383 | D>missing | Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772619751 RCV002526097 CA341766249 |
384 | N>D | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001102336 CA1023602 rs747847223 |
389 | D>Y | Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002537049 CA341766205 rs1570791816 |
390 | N>D | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs751885773 RCV002561715 |
396 | D>E | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002285273 RCV000171631 CA236665 RCV002515246 rs368007942 RCV001102335 RCV002485093 RCV002326939 |
396 | D>N | Catecholaminergic polymorphic ventricular tachycardia 1 Progressive familial heart block Catecholaminergic polymorphic ventricular tachycardia 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002528525 RCV002350497 RCV000611804 rs72554070 |
398 | D>missing | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1654192683 RCV002543675 |
398 | D>N | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001170216 CA341766139 rs1344875325 |
399 | E>K | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs911355175 CA29625296 |
2 | K>N | No |
ClinGen Ensembl |
|
|
rs780771730 CA341767461 |
3 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1024013 rs780771730 |
3 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000171635 CA236677 rs200558909 |
4 | T>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV000170897 CA301916 rs747077051 |
4 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 5 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1024011 rs763716152 |
5 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
rs786205794 RCV000170905 |
6 | L>missing | No |
ClinVar dbSNP |
|
|
rs762622231 CA1024010 |
6 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA175384 rs727502911 RCV000150232 |
7 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA341767418 rs1224922092 |
10 | G>W | No |
ClinGen gnomAD |
|
|
rs752330104 RCV000170898 CA301919 |
12 | Y>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA29625239 rs185539994 |
15 | S>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1461396877 CA341767356 |
19 | A>V | No |
ClinGen gnomAD |
|
|
CA341767346 rs1397786003 |
21 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA341767337 rs140238747 |
22 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1024006 rs140238747 |
22 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1024007 rs759318407 |
22 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1024004 rs760629090 |
26 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455667839 CA341767307 |
27 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748382465 CA1024001 |
31 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA301922 RCV000170899 rs147941846 COSM108103 |
32 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1338492317 CA341767264 |
34 | V>M | No |
ClinGen gnomAD |
|
|
rs780579529 CA1023998 |
35 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA341767207 rs1446792848 |
42 | F>S | No |
ClinGen gnomAD |
|
|
rs1163471411 CA341767199 |
43 | K>R | No |
ClinGen TOPMed |
|
|
rs746405346 CA1023997 |
45 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs777384250 CA1023996 |
48 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs757893573 CA1023995 |
49 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA341767153 rs1396184953 |
50 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1170202728 CA341767139 |
51 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 52 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376824588 CA29625150 |
58 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA341767087 rs866858282 |
59 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 59 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341767088 rs866858282 |
59 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760575933 COSM386105 CA1023990 |
61 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA341767042 rs1557809802 |
66 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
RCV000170906 rs786205795 |
68 | K>missing | No |
ClinVar dbSNP |
|
|
CA341767009 rs774492523 |
70 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749547074 CA1023986 |
71 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1023987 rs768702390 |
71 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313907477 CA341767002 |
72 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs527426700 CA1023985 |
74 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341766968 rs1432869286 |
77 | L>H | No |
ClinGen TOPMed |
|
|
rs781778467 CA341766969 |
77 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239940555 CA341765544 |
81 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 82 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1048509293 CA29609794 |
82 | Q>H | No |
ClinGen TOPMed |
|
|
rs747587377 CA1023963 |
82 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274422352 CA341765525 |
84 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs372587044 CA1023962 |
86 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1023961 rs368650614 |
89 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748926974 CA1023960 |
90 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA341765458 rs1208892614 |
90 | G>R | No |
ClinGen TOPMed |
|
|
CA341765449 rs1181984320 |
91 | F>L | No |
ClinGen TOPMed |
|
|
CA341765416 rs1328122344 |
93 | M>T | No |
ClinGen gnomAD |
|
|
rs1250403818 CA341765422 |
93 | M>V | No |
ClinGen TOPMed |
|
|
rs755766840 CA1023959 |
94 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1364367258 CA341765405 |
94 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472557102 CA341765367 |
96 | A>G | No |
ClinGen TOPMed |
|
|
CA29609772 rs779074469 |
100 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV000611121 rs781062859 CA1023957 |
104 | K>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA341765217 rs1458692786 |
107 | G>S | No |
ClinGen TOPMed |
|
|
rs777830959 CA1023936 |
112 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758425455 CA1023935 |
113 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA341764503 rs1481852204 |
114 | L>R | No |
ClinGen gnomAD |
|
|
CA341764498 rs1231549562 |
115 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774156364 CA29606293 |
116 | I>V | No |
ClinGen Ensembl |
|
|
CA1023933 rs759805011 |
121 | R>H | Variant assessed as Somatic; 0.000139 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1023932 rs754139403 |
123 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1023931 rs761169437 |
127 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 128 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29606219 rs867815346 |
130 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs969295278 CA29606208 |
132 | D>Y | No |
ClinGen Ensembl |
|
|
rs1371033125 CA341764369 |
135 | V>M | No |
ClinGen gnomAD |
|
|
rs1288753581 CA341764363 |
136 | E>K | No |
ClinGen TOPMed |
|
|
rs769333253 CA1023926 |
138 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs746672938 CA1023907 |
144 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1023906 rs773111433 |
145 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553195093 CA341763980 RCV000621965 |
147 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs772041539 CA1023905 |
150 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336794001 CA341763938 |
153 | L>P | No |
ClinGen gnomAD |
|
|
rs1271070495 CA341763930 |
154 | E>V | No |
ClinGen gnomAD |
|
|
rs748089571 CA1023904 |
155 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA341763913 rs1557796962 |
157 | A>D | No |
ClinGen Ensembl |
|
|
rs779063209 CA29603610 |
157 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375598471 CA1023901 |
159 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372283956 COSM675162 CA29603579 |
160 | R>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750680032 CA341763897 |
160 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1023897 rs151201435 |
161 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 162 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763380629 CA1023896 |
163 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA341763875 rs1457706230 |
164 | Y>H | No |
ClinGen gnomAD |
|
|
CA341763868 rs1195549203 |
165 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341763867 rs1195549203 |
165 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1023894 rs765848850 |
166 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM3801392 rs1283548162 CA341763858 |
166 | K>R | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs774943693 CA29603527 |
169 | G>S | No |
ClinGen gnomAD |
|
|
rs1275146329 CA341763803 |
174 | E>G | No |
ClinGen TOPMed |
|
|
CA341763795 rs1339827624 |
175 | D>G | No |
ClinGen gnomAD |
|
|
CA341763791 rs1252744004 |
176 | S>T | No |
ClinGen gnomAD |
|
|
CA341763778 rs1341173578 |
177 | E>D | No |
ClinGen TOPMed |
|
|
CA1023872 rs762922862 |
178 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1023871 rs745879915 |
181 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA341769065 rs1423127899 |
182 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1023868 rs781262104 |
183 | E>K | No |
ClinGen ExAC |
|
| TCGA novel | 184 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs986840982 CA29640352 |
185 | A>V | No |
ClinGen TOPMed |
|
|
rs771091279 CA1023866 |
186 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 186 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1023865 rs747274504 |
188 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1316767193 CA341769010 |
190 | Q>R | No |
ClinGen TOPMed |
|
|
CA341768994 rs758748280 |
192 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1023862 rs779225945 |
193 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753244130 CA1023863 |
193 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA1023860 rs749906718 |
197 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756935347 CA1023858 |
202 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1358846594 CA341768909 |
203 | V>I | No |
ClinGen TOPMed |
|
|
rs752385036 CA1023831 |
208 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1289357362 CA341768873 |
208 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1023830 rs765045923 |
211 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA341768854 rs1168103884 |
211 | M>V | No |
ClinGen gnomAD |
|
|
CA341768847 rs1187341869 |
212 | N>D | No |
ClinGen gnomAD |
|
|
rs776609680 CA1023829 |
213 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341768840 rs1464844688 |
213 | E>K | No |
ClinGen gnomAD |
|
|
CA341768830 rs1557792930 |
214 | V>A | No |
ClinGen Ensembl |
|
|
CA1023828 rs766443119 |
214 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA341768813 rs1289487247 |
216 | F>L | No |
ClinGen gnomAD |
|
|
rs760682221 CA1023826 |
217 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA29635964 rs781609996 |
218 | E>G | No |
ClinGen gnomAD |
|
|
CA341768806 rs1557792917 |
218 | E>K | No |
ClinGen Ensembl |
|
|
rs1295215607 CA341768783 |
221 | M>L | No |
ClinGen gnomAD |
|
|
rs748437580 CA1023823 |
223 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341768761 rs1232993200 |
224 | P>T | No |
ClinGen gnomAD |
|
|
CA341768748 rs937969583 |
226 | A>S | No |
ClinGen gnomAD |
|
|
CA29635938 rs937969583 |
226 | A>T | No |
ClinGen gnomAD |
|
|
rs780769796 CA1023819 |
231 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749796276 CA1023820 RCV000441033 |
231 | P>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1411162094 CA341768701 |
233 | T>A | No |
ClinGen TOPMed |
|
|
rs746446022 CA1023817 |
235 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA29635909 rs919946189 |
235 | E>K | No |
ClinGen Ensembl |
|
|
rs1396285229 CA341768687 |
235 | E>V | No |
ClinGen gnomAD |
|
|
rs1487761610 CA341768681 |
236 | E>* | No |
ClinGen gnomAD |
|
|
CA341768679 rs1246518201 |
236 | E>G | No |
ClinGen gnomAD |
|
|
rs1647617368 RCV002378353 |
239 | E>* | No |
ClinVar dbSNP |
|
|
CA341768641 rs1401719860 |
242 | K>E | No |
ClinGen TOPMed |
|
|
rs754834466 CA341768619 |
245 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1342655330 CA341768613 |
246 | R>* | No |
ClinGen TOPMed |
|
|
rs768261470 CA1023769 |
247 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747600202 CA1023770 |
247 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341768589 rs1281377394 |
248 | T>A | No |
ClinGen TOPMed |
|
|
CA341768587 rs1458723608 |
248 | T>I | No |
ClinGen gnomAD |
|
|
CA341768590 rs1281377394 |
248 | T>P | No |
ClinGen TOPMed |
|
|
CA1023767 rs748981981 |
249 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1023765 rs187306418 |
250 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs187306418 CA1023764 |
250 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1023762 rs200265771 |
251 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341768568 rs727504510 |
253 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000155652 RCV002390357 rs727504510 CA183215 |
253 | R>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs765517257 CA1023760 |
255 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29634657 rs60028701 |
256 | E>K | No |
ClinGen Ensembl |
|
|
rs1432511040 CA341768537 CA341768539 |
257 | M>I | No |
ClinGen TOPMed |
|
|
rs1307677205 CA341768533 |
258 | F>Y | No |
ClinGen gnomAD |
|
|
rs1325421230 CA341768524 |
259 | E>G | No |
ClinGen gnomAD |
|
|
CA341768527 rs1345283398 |
259 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
RCV000037144 CA133709 rs397516642 |
261 | W>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs772419873 CA1023735 |
265 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341767921 rs1482497915 |
266 | N>D | No |
ClinGen gnomAD |
|
|
CA29627205 rs373107157 |
266 | N>I | No |
ClinGen ESP |
|
|
CA341767909 rs1230737146 |
267 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1201611564 CA341767903 |
267 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341767868 rs1347814375 |
270 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341767866 rs1347814375 |
270 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1302718972 CA341767841 |
272 | A>T | No |
ClinGen gnomAD |
|
|
rs369552015 CA29627189 |
274 | A>T | No |
ClinGen Ensembl |
|
|
CA341767799 rs1557789393 |
275 | E>G | No |
ClinGen Ensembl |
|
|
rs774871489 CA1023734 |
278 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1023733 rs769435706 COSM3788482 |
279 | P>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1023715 rs759205292 |
283 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA341766927 rs1156705851 |
283 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1023711 rs772096506 |
288 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779031635 CA1023709 |
290 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs748079105 CA1023710 |
290 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs749524743 CA1023707 |
292 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs749524743 CA341766867 |
292 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs749524743 CA341766866 |
292 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs377691566 CA1023705 |
293 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781565627 CA1023703 |
295 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs750735111 CA1023704 |
295 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29614675 rs563690536 |
296 | T>I | No |
ClinGen 1000Genomes |
|
|
rs974622106 CA29614658 |
299 | P>R | No |
ClinGen Ensembl |
|
|
CA341766820 rs1355762795 |
300 | D>E | No |
ClinGen TOPMed |
|
|
CA341766823 rs1266202968 |
300 | D>G | No |
ClinGen TOPMed |
|
|
rs376147306 CA1023699 |
300 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557785040 COSM3399573 CA341766818 |
301 | L>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs979113189 CA29614647 |
302 | S>T | No |
ClinGen TOPMed |
|
|
rs1325235120 CA341766806 |
303 | I>V | No |
ClinGen gnomAD |
|
|
rs1177845567 CA341766784 |
306 | I>V | No |
ClinGen TOPMed |
|
|
CA1023696 rs121434549 COSM3417918 |
307 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA29614579 rs530137926 |
309 | D>N | No |
ClinGen 1000Genomes |
|
|
rs1001716078 CA29614548 |
311 | F>C | No |
ClinGen Ensembl |
|
|
CA341766749 rs1206001542 |
312 | P>S | No |
ClinGen gnomAD |
|
|
rs1473709565 CA341766719 |
316 | A>T | No |
ClinGen gnomAD |
|
|
rs747288133 CA1023666 |
316 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs778232378 CA1023665 |
317 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1239196993 CA341766706 |
318 | W>R | No |
ClinGen gnomAD |
|
|
CA341766677 rs1570793543 |
321 | T>I | No |
ClinGen Ensembl |
|
|
CA341766664 rs1320031139 |
323 | K>R | No |
ClinGen TOPMed |
|
|
CA1023662 rs369403991 |
324 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA29607852 rs755259845 |
325 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 325 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976749091 CA29607846 |
327 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755754418 CA1023661 |
328 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA341766623 rs767023791 |
330 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1023660 rs767023791 |
330 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300501437 CA341766621 |
330 | Q>R | No |
ClinGen gnomAD |
|
|
CA1023659 rs756953096 |
331 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA1023657 rs763987909 |
333 | V>M | No |
ClinGen ExAC gnomAD |
|
|
VAR_067037 rs28730712 |
335 | N>K | No |
UniProt dbSNP |
|
| TCGA novel | 336 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570793441 CA341766573 |
338 | D>Y | No |
ClinGen Ensembl |
|
|
CA1023633 rs200958192 |
339 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs894946581 CA29606159 |
341 | S>G | No |
ClinGen TOPMed |
|
|
CA1023632 rs762214701 |
341 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs529562535 CA1023630 |
343 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1023628 rs780543114 |
344 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575326580 CA1023629 |
344 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341766521 rs1295335060 |
344 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341766520 rs1295335060 |
344 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1557783756 CA341766467 |
351 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1434685788 CA341766452 |
354 | T>A | No |
ClinGen gnomAD |
|
|
rs1409269224 CA341766447 |
355 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 358 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 359 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163573362 CA341766420 |
359 | E>K | No |
ClinGen TOPMed |
|
|
CA1023620 rs375811174 |
361 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000170896 CA301913 rs786205792 RCV002415723 |
361 | W>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA341766393 RCV000781195 rs1557783735 |
362 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1023619 rs756155045 |
365 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM894354 CA341766374 rs756155045 |
365 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1023617 rs767803602 |
366 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1023615 rs774822570 |
374 | D>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000170911 CA301939 rs786205796 |
376 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs764599645 CA341766303 |
376 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1023614 rs764599645 |
376 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29605906 rs201706772 |
377 | E>A | No |
ClinGen 1000Genomes |
|
|
rs201706772 CA29605899 |
377 | E>G | No |
ClinGen 1000Genomes |
|
|
rs1404605364 CA341766290 |
378 | D>N | No |
ClinGen gnomAD |
|
|
rs1245820161 CA341766283 |
379 | D>Y | No |
ClinGen TOPMed |
|
|
rs371537492 CA29605850 |
380 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1023605 rs770204929 |
382 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1570791851 CA341766255 |
383 | D>N | No |
ClinGen Ensembl |
|
|
CA1023604 rs772619751 |
384 | N>H | No |
ClinGen ExAC TOPMed |
|
|
CA341766238 rs1369896914 |
385 | S>C | No |
ClinGen TOPMed |
|
|
rs1467470359 CA341766228 |
387 | E>K | No |
ClinGen gnomAD |
|
|
rs771682039 CA341766213 |
388 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1023601 rs200530025 |
389 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341766193 rs1179094272 |
391 | D>E | No |
ClinGen gnomAD |
|
|
rs749043824 CA1023599 |
391 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA341766189 rs1436715639 |
392 | D>Y | No |
ClinGen gnomAD |
|
|
rs779986877 CA1023598 |
393 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA341766170 rs756032036 CA1023597 |
394 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA341766176 rs1431580045 |
394 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
RCV000170885 rs786205789 |
395 | D>missing | No |
ClinVar dbSNP |
|
|
CA341766166 rs1261690750 |
395 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA341766169 rs750480601 |
395 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1023596 rs750480601 |
395 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs786205267 RCV000171632 |
398 | D>missing | No |
ClinVar dbSNP |
|
|
rs72554070 RCV000223769 |
398 | D>missing | No |
ClinVar dbSNP |
|
|
COSM894350 rs375286334 CA1023593 |
399 | E>A | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
1 associated diseases with O14958
[MIM: 611938]: Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2)
An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT2 inheritance is autosomal recessive. {ECO:0000269|PubMed:11704930, ECO:0000269|PubMed:15485681, ECO:0000269|PubMed:16908766, ECO:0000269|PubMed:17881003, ECO:0000269|PubMed:18399795, ECO:0000269|PubMed:27157848}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT2 inheritance is autosomal recessive. {ECO:0000269|PubMed:11704930, ECO:0000269|PubMed:15485681, ECO:0000269|PubMed:16908766, ECO:0000269|PubMed:17881003, ECO:0000269|PubMed:18399795, ECO:0000269|PubMed:27157848}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for O14958
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Calsequestrin, conserved site | 20 - 34 | IPR018233-1 |
| conserved_site | Calsequestrin, conserved site | 357 - 376 | IPR018233-2 |
| domain | Calsequestrin, middle TRX-fold domain | 145 - 246 | IPR041858 |
| domain | Calsequestrin, N-terminal TRX-fold domain | 24 - 143 | IPR041859 |
| domain | Calsequestrin, C-terminal TRX-fold domain | 247 - 366 | IPR041860 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| calcium channel complex | An ion channel complex through which calcium ions pass. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| junctional sarcoplasmic reticulum membrane | The part of the sarcoplasmic reticulum membrane that contains calcium release channels, is devoted to calcium release and is juxtaposed to transverse tubule membrane. The junctional sarcoplasmic reticulum membrane consists of the junctional region of the terminal cisterna membrane. |
| sarcoplasmic reticulum | A fine reticular network of membrane-limited elements that pervades the sarcoplasm of a muscle cell; continuous over large portions of the cell and with the nuclear envelope; that part of the endoplasmic reticulum specialized for calcium release, uptake and storage. |
| sarcoplasmic reticulum lumen | The volume enclosed by the membranes of the sarcoplasmic reticulum. |
| sarcoplasmic reticulum membrane | The lipid bilayer surrounding the sarcoplasmic reticulum. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium ion sequestering activity | Binding to a calcium ion to prevent it from interacting with other partners or to inhibit its localization to the area of the cell or complex where it is active. |
| calcium-dependent protein binding | Binding to a protein or protein complex in the presence of calcium. |
| ion binding | Binding to an ion, a charged atoms or groups of atoms. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
18 GO annotations of biological process
| Name | Definition |
|---|---|
| cardiac muscle contraction | Muscle contraction of cardiac muscle tissue. |
| cellular calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. |
| cellular response to caffeine | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a caffeine stimulus. Caffeine is an alkaloid found in numerous plant species, where it acts as a natural pesticide that paralyzes and kills certain insects feeding upon them. |
| detection of calcium ion | The series of events in which a calcium ion stimulus is received by a cell and converted into a molecular signal. |
| negative regulation of potassium ion transmembrane transporter activity | Any process that stops, prevents or reduces the frequency, rate or extent of potassium ion transmembrane transporter activity. |
| negative regulation of potassium ion transport | Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| negative regulation of ryanodine-sensitive calcium-release channel activity | Any process that decreases the activity of a ryanodine-sensitive calcium-release channel. The ryanodine-sensitive calcium-release channel catalyzes the transmembrane transfer of a calcium ion by a channel that opens when a ryanodine class ligand has been bound by the channel complex or one of its constituent parts. |
| protein polymerization | The process of creating protein polymers, compounds composed of a large number of component monomers; polymeric proteins may be made up of different or identical monomers. Polymerization occurs by the addition of extra monomers to an existing poly- or oligomeric protein. |
| Purkinje myocyte to ventricular cardiac muscle cell signaling | Any process that mediates the transfer of information from a Purkinje myocyte to a ventricular cardiac muscle cell. |
| regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion | Any process that modulates the frequency, rate or extent of cardiac muscle contraction via the regulation of the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol. The sarcoplasmic reticulum is the endoplasmic reticulum of striated muscle, specialised for the sequestration of calcium ions that are released upon receipt of a signal relayed by the T tubules from the neuromuscular junction. |
| regulation of cell communication by electrical coupling | Any process that modulates the frequency, rate or extent of cell communication via electrical coupling. Cell communication via electrical coupling is the process that mediates signaling interactions between one cell and another cell by transfer of current between their adjacent cytoplasms via intercellular protein channels. |
| regulation of heart rate | Any process that modulates the frequency or rate of heart contraction. |
| regulation of membrane repolarization | Any process that modulates the establishment or extent of a membrane potential in the polarizing direction towards the resting potential, usually from positive to negative. |
| regulation of release of sequestered calcium ion into cytosol | Any process that modulates the frequency, rate or extent of the release into the cytosolic compartment of calcium ions sequestered in the endoplasmic reticulum or mitochondria. |
| regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | Any process that modulates the rate, frequency or extent of release of sequestered calcium ion into cytosol by the sarcoplasmic reticulum, the process in which the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol occurs via calcium release channels. |
| sequestering of calcium ion | The process of binding or confining calcium ions such that they are separated from other components of a biological system. |
| sequestering of metal ion | The process of binding or confining metal ions such that they are separated from other components of a biological system. |
| striated muscle contraction | A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKRTHLFIVG | IYFLSSCRAE | EGLNFPTYDG | KDRVVSLSEK | NFKQVLKKYD | LLCLYYHEPV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSDKVTQKQF | QLKEIVLELV | AQVLEHKAIG | FVMVDAKKEA | KLAKKLGFDE | EGSLYILKGD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RTIEFDGEFA | ADVLVEFLLD | LIEDPVEIIS | SKLEVQAFER | IEDYIKLIGF | FKSEDSEYYK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AFEEAAEHFQ | PYIKFFATFD | KGVAKKLSLK | MNEVDFYEPF | MDEPIAIPNK | PYTEEELVEF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VKEHQRPTLR | RLRPEEMFET | WEDDLNGIHI | VAFAEKSDPD | GYEFLEILKQ | VARDNTDNPD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSILWIDPDD | FPLLVAYWEK | TFKIDLFRPQ | IGVVNVTDAD | SVWMEIPDDD | DLPTAEELED |
| 370 | 380 | 390 | |||
| WIEDVLSGKI | NTEDDDEDDD | DDDNSDEEDN | DDSDDDDDE |