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Protein

Voltage-dependent L-type calcium channel subunit alpha-1C

Gene

CACNA1C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1C subunit play an important role in excitation-contraction coupling in the heart. The various isoforms display marked differences in the sensitivity to DHP compounds. Binding of calmodulin or CABP1 at the same regulatory sites results in an opposit effects on the channel function.6 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei363Calcium ion selectivity and permeability1 Publication1
Sitei706Calcium ion selectivity and permeabilityBy similarity1
Sitei1135Calcium ion selectivity and permeability1 Publication1
Sitei1464Calcium ion selectivity and permeability1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi1553 – 1564By similarityAdd BLAST12

GO - Molecular functioni

  • alpha-actinin binding Source: BHF-UCL
  • calmodulin binding Source: UniProtKB
  • high voltage-gated calcium channel activity Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW
  • voltage-gated calcium channel activity Source: UniProtKB
  • voltage-gated calcium channel activity involved in AV node cell action potential Source: BHF-UCL
  • voltage-gated calcium channel activity involved in cardiac muscle cell action potential Source: BHF-UCL

GO - Biological processi

  • calcium ion transmembrane transport Source: UniProtKB
  • calcium ion transmembrane transport via high voltage-gated calcium channel Source: BHF-UCL
  • calcium ion transport into cytosol Source: BHF-UCL
  • calcium-mediated signaling using extracellular calcium source Source: BHF-UCL
  • camera-type eye development Source: BHF-UCL
  • cardiac conduction Source: UniProtKB
  • cardiac muscle cell action potential involved in contraction Source: BHF-UCL
  • cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
  • embryonic forelimb morphogenesis Source: BHF-UCL
  • heart development Source: BHF-UCL
  • immune system development Source: BHF-UCL
  • membrane depolarization during atrial cardiac muscle cell action potential Source: BHF-UCL
  • membrane depolarization during AV node cell action potential Source: BHF-UCL
  • membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
  • positive regulation of cytosolic calcium ion concentration Source: UniProtKB
  • regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: BHF-UCL
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of insulin secretion Source: Reactome
  • regulation of ventricular cardiac muscle cell action potential Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel, Voltage-gated channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000151067-MONOMER.
ReactomeiR-HSA-400042. Adrenaline,noradrenaline inhibits insulin secretion.
R-HSA-419037. NCAM1 interactions.
R-HSA-422356. Regulation of insulin secretion.
R-HSA-5576892. Phase 0 - rapid depolarisation.
R-HSA-5576893. Phase 2 - plateau phase.
R-HSA-5576894. Phase 1 - inactivation of fast Na+ channels.
SIGNORiQ13936.

Protein family/group databases

TCDBi1.A.1.11.4. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Voltage-dependent L-type calcium channel subunit alpha-1C
Alternative name(s):
Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle
Voltage-gated calcium channel subunit alpha Cav1.2
Gene namesi
Name:CACNA1C
Synonyms:CACH2, CACN2, CACNL1A1, CCHL1A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:1390. CACNA1C.

Subcellular locationi

  • Membrane By similarity; Multi-pass membrane protein By similarity
  • Cell membrane By similarity

  • Note: The interaction between RRAD and CACNB2 regulates its trafficking to the cell membrane.By similarity

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 124CytoplasmicSequence analysisAdd BLAST124
Transmembranei125 – 143Helical; Name=S1 of repeat ISequence analysisAdd BLAST19
Topological domaini144 – 160ExtracellularSequence analysisAdd BLAST17
Transmembranei161 – 181Helical; Name=S2 of repeat ISequence analysisAdd BLAST21
Topological domaini182 – 193CytoplasmicSequence analysisAdd BLAST12
Transmembranei194 – 212Helical; Name=S3 of repeat ISequence analysisAdd BLAST19
Topological domaini213 – 232ExtracellularSequence analysisAdd BLAST20
Transmembranei233 – 251Helical; Name=S4 of repeat ISequence analysisAdd BLAST19
Topological domaini252 – 270CytoplasmicSequence analysisAdd BLAST19
Transmembranei271 – 290Helical; Name=S5 of repeat ISequence analysisAdd BLAST20
Topological domaini291 – 380ExtracellularSequence analysisAdd BLAST90
Transmembranei381 – 405Helical; Name=S6 of repeat ISequence analysisAdd BLAST25
Topological domaini406 – 524CytoplasmicSequence analysisAdd BLAST119
Transmembranei525 – 543Helical; Name=S1 of repeat IISequence analysisAdd BLAST19
Topological domaini544 – 558ExtracellularSequence analysisAdd BLAST15
Transmembranei559 – 578Helical; Name=S2 of repeat IISequence analysisAdd BLAST20
Topological domaini579 – 586CytoplasmicSequence analysis8
Transmembranei587 – 605Helical; Name=S3 of repeat IISequence analysisAdd BLAST19
Topological domaini606 – 615ExtracellularSequence analysis10
Transmembranei616 – 634Helical; Name=S4 of repeat IISequence analysisAdd BLAST19
Topological domaini635 – 653CytoplasmicSequence analysisAdd BLAST19
Transmembranei654 – 673Helical; Name=S5 of repeat IISequence analysisAdd BLAST20
Topological domaini674 – 728ExtracellularSequence analysisAdd BLAST55
Transmembranei729 – 753Helical; Name=S6 of repeat IISequence analysisAdd BLAST25
Topological domaini754 – 900CytoplasmicSequence analysisAdd BLAST147
Transmembranei901 – 919Helical; Name=S1 of repeat IIISequence analysisAdd BLAST19
Topological domaini920 – 935ExtracellularSequence analysisAdd BLAST16
Transmembranei936 – 955Helical; Name=S2 of repeat IIISequence analysisAdd BLAST20
Topological domaini956 – 987CytoplasmicSequence analysisAdd BLAST32
Transmembranei988 – 1006Helical; Name=S3 of repeat IIISequence analysisAdd BLAST19
Topological domaini1007 – 1013ExtracellularSequence analysis7
Transmembranei1014 – 1032Helical; Name=S4 of repeat IIISequence analysisAdd BLAST19
Topological domaini1033 – 1051CytoplasmicSequence analysisAdd BLAST19
Transmembranei1052 – 1071Helical; Name=S5 of repeat IIISequence analysisAdd BLAST20
Topological domaini1072 – 1161ExtracellularSequence analysisAdd BLAST90
Transmembranei1162 – 1186Helical; Name=S6 of repeat IIISequence analysisAdd BLAST25
Topological domaini1187 – 1239CytoplasmicSequence analysisAdd BLAST53
Transmembranei1240 – 1258Helical; Name=S1 of repeat IVSequence analysisAdd BLAST19
Topological domaini1259 – 1273ExtracellularSequence analysisAdd BLAST15
Transmembranei1274 – 1293Helical; Name=S2 of repeat IVSequence analysisAdd BLAST20
Topological domaini1294 – 1301CytoplasmicSequence analysis8
Transmembranei1302 – 1320Helical; Name=S3 of repeat IVSequence analysisAdd BLAST19
Topological domaini1321 – 1372ExtracellularSequence analysisAdd BLAST52
Transmembranei1373 – 1391Helical; Name=S4 of repeat IVSequence analysisAdd BLAST19
Topological domaini1392 – 1410CytoplasmicSequence analysisAdd BLAST19
Transmembranei1411 – 1430Helical; Name=S5 of repeat IVSequence analysisAdd BLAST20
Topological domaini1431 – 1499ExtracellularSequence analysisAdd BLAST69
Transmembranei1500 – 1524Helical; Name=S6 of repeat IVSequence analysisAdd BLAST25
Topological domaini1525 – 2221CytoplasmicSequence analysisAdd BLAST697

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • integral component of membrane Source: UniProtKB
  • L-type voltage-gated calcium channel complex Source: BHF-UCL
  • plasma membrane Source: UniProtKB
  • postsynaptic density Source: UniProtKB
  • voltage-gated calcium channel complex Source: UniProtKB
  • Z disc Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Timothy syndrome (TS)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDisorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism.
See also OMIM:601005
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07514828A → T in TS; only with cardiac manifestation; unknown pathological significance; increased channel activity. 1 Publication1
Natural variantiVAR_075151381P → S in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_026741402G → S in TS. 1 Publication1
Natural variantiVAR_026742406G → R in TS; causes a nearly complete loss of voltage-dependent channel inactivation. 1 Publication1
Natural variantiVAR_075152456M → I in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_075154518R → C in TS; only with cardiac manifestation; decreased current density; associated with slower inactivation; altered localization. 1 Publication1
Natural variantiVAR_075155518R → H in TS; only with cardiac manifestation; decreased current density; associated with slower inactivation. 1 Publication1
Natural variantiVAR_075156582A → D in TS; only with cardiac manifestation; gain of function effect on channel activity; slower inactivation. 1 Publication1
Natural variantiVAR_075158858R → H in TS; only with cardiac manifestation; gain of function effect on channel activity; slower inactivation. 1 Publication1
Natural variantiVAR_075159860R → G in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0723811186I → T in TS; electrophysiological phenotype, characterized by loss of current density and gain-of-function shift in activation leading to increased steady-state current; gain of function activity. 2 Publications1
Natural variantiVAR_0751601186I → V in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0751621523I → M in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0751631544E → K in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0751671800T → I in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication1
Natural variantiVAR_0751681831G → C in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_0751721953T → M in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication1
Natural variantiVAR_0751762097V → I in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication1
Brugada syndrome 3 (BRGDA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
See also OMIM:611875
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04403939A → V in BRGDA3; loss of function. 1 Publication1
Natural variantiVAR_044040490G → R in BRGDA3; loss of function. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi363E → K: Loss of selectivity for divalent over monovalent cations. 1 Publication1
Mutagenesisi954G → F: Affects voltage-dependent inhibition by dihydropyridines; when associated with I-958. 1 Publication1
Mutagenesisi958Y → I: Affects voltage-dependent inhibition by dihydropyridines; when associated with F-954. 1 Publication1
Mutagenesisi1135E → K: Loss of selectivity for divalent over monovalent cations. 1 Publication1
Mutagenesisi1464E → K: Loss of selectivity for divalent over monovalent cations. 1 Publication1

Keywords - Diseasei

Autism, Autism spectrum disorder, Brugada syndrome, Disease mutation, Long QT syndrome

Organism-specific databases

DisGeNETi775.
MalaCardsiCACNA1C.
MIMi601005. phenotype.
611875. phenotype.
OpenTargetsiENSG00000151067.
Orphaneti130. Brugada syndrome.
65283. Timothy syndrome.
PharmGKBiPA83.

Chemistry databases

ChEMBLiCHEMBL1940.
DrugBankiDB00381. Amlodipine.
DB00568. Cinnarizine.
DB04920. Clevidipine.
DB04855. Dronedarone.
DB06751. Drotaverine.
DB00898. Ethanol.
DB01023. Felodipine.
DB00308. Ibutilide.
DB00270. Isradipine.
DB00653. Magnesium Sulfate.
DB00622. Nicardipine.
DB01115. Nifedipine.
DB06712. Nilvadipine.
DB00393. Nimodipine.
DB00401. Nisoldipine.
DB01054. Nitrendipine.
DB00421. Spironolactone.
DB00661. Verapamil.
GuidetoPHARMACOLOGYi529.

Polymorphism and mutation databases

BioMutaiCACNA1C.
DMDMi308153651.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000539281 – 2221Voltage-dependent L-type calcium channel subunit alpha-1CAdd BLAST2221

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi153N-linked (GlcNAc...)Sequence analysis1
Glycosylationi328N-linked (GlcNAc...)Sequence analysis1
Modified residuei469PhosphoserineBy similarity1
Modified residuei476PhosphothreonineBy similarity1
Modified residuei808PhosphoserineBy similarity1
Modified residuei815PhosphoserineBy similarity1
Glycosylationi1436N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1487N-linked (GlcNAc...)Sequence analysis1
Modified residuei1535Phosphoserine; by PKASequence analysis1
Modified residuei1718PhosphoserineBy similarity1
Modified residuei1739PhosphoserineBy similarity1
Modified residuei1973Phosphoserine; by PKASequence analysis1
Modified residuei1981Phosphoserine; by PKASequence analysis1

Post-translational modificationi

Phosphorylation by PKA activates the channel.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ13936.
PeptideAtlasiQ13936.
PRIDEiQ13936.

PTM databases

iPTMnetiQ13936.
PhosphoSitePlusiQ13936.

Expressioni

Tissue specificityi

Expressed in brain, heart, jejunum, ovary, pancreatic beta-cells and vascular smooth muscle. Overall expression is reduced in atherosclerotic vascular smooth muscle.3 Publications

Gene expression databases

BgeeiENSG00000151067.
ExpressionAtlasiQ13936. baseline and differential.
GenevisibleiQ13936. HS.

Organism-specific databases

HPAiHPA039796.

Interactioni

Subunit structurei

Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts with CACNA2D4. Interacts (via the N-terminus and the C-terminal C and IQ motifs) with CABP1. The binding via the C motif is calcium independent whereas the binding via IQ requires the presence of calcium and is mutually exclusive with calmodulin binding. The binding to the cytoplasmic N-terminal domain is calcium independent but is essential for the channel modulation. Interacts (via C-terminal CDB motif) with CABP5; in a calcium-dependent manner (By similarity). Interacts with CIB1; the interaction increases upon cardiomyocytes hypertrophy (By similarity).By similarity4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CABP1Q9NZU74EBI-1038838,EBI-907894
CALM3P6215812EBI-1038838,EBI-397435

GO - Molecular functioni

  • alpha-actinin binding Source: BHF-UCL
  • calmodulin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi107229. 14 interactors.
DIPiDIP-29589N.
IntActiQ13936. 4 interactors.
STRINGi9606.ENSP00000266376.

Chemistry databases

BindingDBiQ13936.

Structurei

Secondary structure

12221
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi48 – 65Combined sources18
Helixi429 – 442Combined sources14
Helixi1609 – 1651Combined sources43
Turni1661 – 1663Combined sources3
Helixi1666 – 1680Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1T0JX-ray2.00C428-445[»]
2BE6X-ray2.00D/E/F1659-1692[»]
2F3YX-ray1.45B1665-1685[»]
2F3ZX-ray1.60B1665-1685[»]
2LQCNMR-B47-68[»]
3G43X-ray2.10E/F1609-1682[»]
3OXQX-ray2.55E/F1609-1685[»]
ProteinModelPortaliQ13936.
SMRiQ13936.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13936.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati111 – 408IAdd BLAST298
Repeati510 – 756IIAdd BLAST247
Repeati887 – 1189IIIAdd BLAST303
Repeati1226 – 1527IVAdd BLAST302

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni428 – 445AID/alpha-interaction domain; mediates interaction with the beta subunitBy similarityAdd BLAST18
Regioni1109 – 1199Dihydropyridine bindingBy similarityAdd BLAST91
Regioni1478 – 1546Dihydropyridine bindingBy similarityAdd BLAST69
Regioni1492 – 1535Phenylalkylamine bindingBy similarityAdd BLAST44

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi654 – 660Poly-Leu7
Compositional biasi768 – 774Poly-Glu7
Compositional biasi1167 – 1173Poly-Ile7
Compositional biasi2084 – 2087Poly-Gly4

Domaini

Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
Binding of intracellular calcium through the EF-hand motif inhibits the opening of the channel.By similarity

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2301. Eukaryota.
ENOG410XNP6. LUCA.
GeneTreeiENSGT00830000128247.
HOVERGENiHBG050763.
InParanoidiQ13936.
KOiK04850.
PhylomeDBiQ13936.
TreeFamiTF312805.

Family and domain databases

Gene3Di1.20.120.350. 6 hits.
InterProiIPR031688. CAC1F_C.
IPR027359. Channel_four-helix_dom.
IPR031649. GPHH_dom.
IPR005821. Ion_trans_dom.
IPR014873. VDCC_a1su_IQ.
IPR005451. VDCC_L_a1csu.
IPR005446. VDCC_L_a1su.
IPR002077. VDCCAlpha1.
[Graphical view]
PANTHERiPTHR10037:SF188. PTHR10037:SF188. 3 hits.
PfamiPF08763. Ca_chan_IQ. 1 hit.
PF16885. CAC1F_C. 2 hits.
PF16905. GPHH. 1 hit.
PF00520. Ion_trans. 5 hits.
[Graphical view]
PRINTSiPR00167. CACHANNEL.
PR01630. LVDCCALPHA1.
PR01635. LVDCCALPHA1C.
SMARTiSM01062. Ca_chan_IQ. 1 hit.
[Graphical view]

Sequences (37)i

Sequence statusi: Complete.

This entry describes 37 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist. Exons 8A, 21, 22, 31, 32, 33, 40B, 43A, 41A and 45 are alternatively spliced in a variety of combinations. Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: Q13936-1) [UniParc]FASTAAdd to basket
Also known as: HFCC, Fibroblast

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL
60 70 80 90 100
SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP
110 120 130 140 150
PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED
160 170 180 190 200
DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF
210 220 230 240 250
IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG
260 270 280 290 300
VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN
310 320 330 340 350
QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA
360 370 380 390 400
FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV
410 420 430 440 450
LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE
460 470 480 490 500
NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS
510 520 530 540 550
KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN
560 570 580 590 600
WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI
610 620 630 640 650
LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS
660 670 680 690 700
IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF
710 720 730 740 750
QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA
760 770 780 790 800
IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK
810 820 830 840 850
EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE
860 870 880 890 900
PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT
910 920 930 940 950
IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL
960 970 980 990 1000
KILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS
1010 1020 1030 1040 1050
LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG
1060 1070 1080 1090 1100
NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE
1110 1120 1130 1140 1150
VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE
1160 1170 1180 1190 1200
DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC
1210 1220 1230 1240 1250
ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL
1260 1270 1280 1290 1300
LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS
1310 1320 1330 1340 1350
DPWNVFDFLI VIGSIIDVIL SETNHYFCDA WNTFDALIVV GSIVDIAITE
1360 1370 1380 1390 1400
VNPAEHTQCS PSMNAEENSR ISITFFRLFR VMRLVKLLSR GEGIRTLLWT
1410 1420 1430 1440 1450
FIKSFQALPY VALLIVMLFF IYAVIGMQVF GKIALNDTTE INRNNNFQTF
1460 1470 1480 1490 1500
PQAVLLLFRC ATGEAWQDIM LACMPGKKCA PESEPSNSTE GETPCGSSFA
1510 1520 1530 1540 1550
VFYFISFYML CAFLIINLFV AVIMDNFDYL TRDWSILGPH HLDEFKRIWA
1560 1570 1580 1590 1600
EYDPEAKGRI KHLDVVTLLR RIQPPLGFGK LCPHRVACKR LVSMNMPLNS
1610 1620 1630 1640 1650
DGTVMFNATL FALVRTALRI KTEGNLEQAN EELRAIIKKI WKRTSMKLLD
1660 1670 1680 1690 1700
QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ
1710 1720 1730 1740 1750
AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL
1760 1770 1780 1790 1800
FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST
1810 1820 1830 1840 1850
FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI
1860 1870 1880 1890 1900
RVQEVAWKLS SNRERHVPMC EDLELRRDSG SAGTQAHCLL LRKANPSRCH
1910 1920 1930 1940 1950
SRESQAAMAG QEETSQDETY EVKMNHDTEA CSEPSLLSTE MLSYQDDENR
1960 1970 1980 1990 2000
QLTLPEEDKR DIRQSPKRGF LRSASLGRRA SFHLECLKRQ KDRGGDISQK
2010 2020 2030 2040 2050
TVLPLHLVHH QALAVAGLSP LLQRSHSPAS FPRPFATPPA TPGSRGWPPQ
2060 2070 2080 2090 2100
PVPTLRLEGV ESSEKLNSSF PSIHCGSWAE TTPGGGGSSA ARRVRPVSLM
2110 2120 2130 2140 2150
VPSQAGAPGR QFHGSASSLV EAVLISEGLG QFAQDPKFIE VTTQELADAC
2160 2170 2180 2190 2200
DMTIEEMESA ADNILSGGAP QSPNGALLPF VNCRDAGQDR AGGEEDAGCV
2210 2220
RARGRPSEEE LQDSRVYVSS L
Length:2,221
Mass (Da):248,977
Last modified:October 5, 2010 - v4
Checksum:i7E755F7AF4C86769
GO
Isoform 2 (identifier: Q13936-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1864-1897: ERHVPMCEDLELRRDSGSAGTQAHCLLLRKANPS → MHCCDMLDGG...PAGCTAPQHA

Show »
Length:2,257
Mass (Da):252,507
Checksum:iDF66240B243CFD41
GO
Isoform 3 (identifier: Q13936-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF

Note: Contains exon 8a.
Show »
Length:2,221
Mass (Da):248,995
Checksum:iBE971E1A74A4F9AF
GO
Isoform 4 (identifier: Q13936-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.

Note: Lacks exon 21.
Show »
Length:2,201
Mass (Da):246,587
Checksum:iE930E8FDB611A310
GO
Isoform 5 (identifier: Q13936-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.

Note: Lacks exon 22.
Show »
Length:2,201
Mass (Da):246,724
Checksum:i491524D070A5EF23
GO
Isoform 6 (identifier: Q13936-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1297-1324: Missing.

Note: Lacks exon 31.
Show »
Length:2,193
Mass (Da):245,820
Checksum:i7661E18AB73EB11D
GO
Isoform 7 (identifier: Q13936-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1325-1352: Missing.

Note: Lacks exon 32.
Show »
Length:2,193
Mass (Da):245,868
Checksum:i3E74F4FE1EFDC425
GO
Isoform 8 (identifier: Q13936-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1353-1363: Missing.

Note: Lacks exon 33.
Show »
Length:2,210
Mass (Da):247,807
Checksum:iD48DBFDEFBEDF3DC
GO
Isoform 9 (identifier: Q13936-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1618-1699: LRIKTEGNLE...KPSQRNALSL → LREAELSSQV...RGPHHPPLGF

Note: Contains exon 40B and 43A.
Show »
Length:2,222
Mass (Da):248,607
Checksum:iD861F6A49A1E0B80
GO
Isoform 10 (identifier: Q13936-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA

Note: Contains exon 41A.
Show »
Length:2,240
Mass (Da):250,938
Checksum:iE8571E4C44FB3786
GO
Isoform 11 (identifier: Q13936-11) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.90

The sequence of this isoform differs from the canonical sequence as follows:
     1864-1898: Missing.

Note: Lacks exon 45.
Show »
Length:2,186
Mass (Da):245,047
Checksum:iE8D9E8F0FFDC1A4D
GO
Isoform 12 (identifier: Q13936-12) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.70

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1297-1324: Missing.
     1864-1898: Missing.

Show »
Length:2,138
Mass (Da):239,638
Checksum:i200DA905F439D369
GO
Isoform 13 (identifier: Q13936-13) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.127

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1325-1352: Missing.
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,157
Mass (Da):241,647
Checksum:i1153EEBBE8CE80B3
GO
Isoform 14 (identifier: Q13936-14) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.126

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1297-1324: Missing.
     1363-1363: M → MGPSCSHPPLAVLTAPPVADGFQ
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,179
Mass (Da):243,742
Checksum:i3826188216441CBC
GO
Isoform 15 (identifier: Q13936-15) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.125

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1297-1324: Missing.
     1351-1363: Missing.
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,144
Mass (Da):240,216
Checksum:iDB5FAF45ABBB5029
GO
Isoform 16 (identifier: Q13936-16) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     952-971: Missing.
     1325-1352: Missing.

Show »
Length:2,144
Mass (Da):240,337
Checksum:iC12EBA539FF14497
GO
Isoform 17 (identifier: Q13936-17) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     952-971: Missing.
     1325-1352: Missing.
     1864-1898: Missing.

Show »
Length:2,109
Mass (Da):236,407
Checksum:iC55728B593C24297
GO
Isoform 18 (identifier: Q13936-18) [UniParc]FASTAAdd to basket
Also known as: HHT-1

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     952-971: Missing.
     1325-1352: Missing.
     1864-1897: ERHVPMCEDLELRRDSGSAGTQAHCLLLRKANPS → MHCCDMLDGG...PAGCTAPQHA

Show »
Length:2,180
Mass (Da):243,867
Checksum:iBDAC026FE2CACCDF
GO
Isoform 19 (identifier: Q13936-19) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.76

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1297-1324: Missing.
     1353-1363: Missing.
     1864-1898: Missing.

Show »
Length:2,127
Mass (Da):238,331
Checksum:i8F48E5719F6E9E1A
GO
Isoform 20 (identifier: Q13936-20) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.77

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1297-1324: Missing.
     1864-1898: Missing.

Note: Predominant isoform in atherosclerotic vascular smooth muscle cells.
Show »
Length:2,138
Mass (Da):239,501
Checksum:iD79ED1D29A7A8BC4
GO
Isoform 21 (identifier: Q13936-21) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.69

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1325-1352: Missing.
     1864-1898: Missing.

Show »
Length:2,138
Mass (Da):239,549
Checksum:i543CE8B026838D86
GO
Isoform 22 (identifier: Q13936-22) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.78

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1325-1352: Missing.
     1864-1898: Missing.

Show »
Length:2,138
Mass (Da):239,686
Checksum:iA3AF906748C0D52B
GO
Isoform 23 (identifier: Q13936-23) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.105

The sequence of this isoform differs from the canonical sequence as follows:
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     932-951: Missing.
     1297-1324: Missing.
     1864-1898: Missing.

Show »
Length:2,138
Mass (Da):239,519
Checksum:i5CB0952B62394E78
GO
Isoform 24 (identifier: Q13936-24) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.71

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1297-1324: Missing.
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,157
Mass (Da):241,599
Checksum:iC4AAB050CF536648
GO
Isoform 25 (identifier: Q13936-25) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.73

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1297-1324: Missing.
     1353-1363: Missing.
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,146
Mass (Da):240,430
Checksum:iAA7E9FA59B52D8F8
GO
Isoform 26 (identifier: Q13936-26) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.86

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1297-1324: Missing.
     1618-1699: LRIKTEGNLE...KPSQRNALSL → LREAELSSQV...RGPHHPPLGF
     1864-1898: Missing.

Note: Not inhibited by calcium.Curated
Show »
Length:2,139
Mass (Da):239,131
Checksum:i6EB51667F5ABD712
GO
Isoform 27 (identifier: Q13936-27) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.72

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1297-1324: Missing.
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,157
Mass (Da):241,462
Checksum:iC2DE4EA2A12B1F77
GO
Isoform 28 (identifier: Q13936-28) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     952-971: Missing.
     1297-1324: Missing.
     1353-1363: Missing.
     1864-1897: ERHVPMCEDLELRRDSGSAGTQAHCLLLRKANPS → MHCCDMLDGG...PAGCTAPQHA

Show »
Length:2,169
Mass (Da):242,650
Checksum:i53DBBEE14BEAB4C6
GO
Isoform 29 (identifier: Q13936-29) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.74

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1297-1324: Missing.
     1353-1363: Missing.
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,146
Mass (Da):240,292
Checksum:iAEAF038ED91C729C
GO
Isoform 30 (identifier: Q13936-30) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.87

The sequence of this isoform differs from the canonical sequence as follows:
     1297-1324: Missing.
     1864-1898: Missing.

Show »
Length:2,158
Mass (Da):241,891
Checksum:iFB21849EC28ABB24
GO
Isoform 31 (identifier: Q13936-31) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.88

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1864-1898: Missing.

Show »
Length:2,166
Mass (Da):242,794
Checksum:i0929EBBC4916E1F2
GO
Isoform 32 (identifier: Q13936-32) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.89

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1353-1363: Missing.
     1864-1898: Missing.

Show »
Length:2,155
Mass (Da):241,488
Checksum:iF62ACB4D54FC4180
GO
Isoform 33 (identifier: Q13936-33) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.85

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1297-1324: Missing.

Show »
Length:2,173
Mass (Da):243,430
Checksum:iEA4530716379E381
GO
Isoform 34 (identifier: Q13936-34) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C,long-NT

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: MVNENTRMYIPEENHQ → MLRAFVQPGTPAYQPLPSHLSANTEVKFKGTLVHEAQLNYFYISPG

Note: Enhanced by PKC activator.
Show »
Length:2,251
Mass (Da):252,091
Checksum:i2A9D55B23A501120
GO
Isoform 35 (identifier: Q13936-35) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     306-308: Missing.
     952-971: Missing.
     1325-1352: Missing.
     1864-1898: Missing.

Show »
Length:2,135
Mass (Da):239,375
Checksum:iFB695F875A7F2449
GO
Isoform 36 (identifier: Q13936-36) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     952-971: Missing.
     1325-1352: Missing.

Note: Gene prediction based on EST data.
Show »
Length:2,173
Mass (Da):243,633
Checksum:i4819FD32FA521438
GO
Isoform 37 (identifier: Q13936-37) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     952-971: Missing.
     1325-1352: Missing.
     1864-1898: Missing.

Note: Gene prediction based on EST data.
Show »
Length:2,138
Mass (Da):239,704
Checksum:i2881D49EB0831097
GO

Sequence cautioni

The sequence AAA02500 differs from that shown. Reason: Frameshift at position 1844.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1072K → Q in Z26272 (PubMed:7959794).Curated1
Sequence conflicti1157N → K in AAA58409 (PubMed:1653763).Curated1
Sequence conflicti1244L → P in AAA74590 (PubMed:1335957).Curated1
Sequence conflicti1384L → P in AAA74590 (PubMed:1335957).Curated1
Sequence conflicti1412A → V in AAI46847 (PubMed:15489334).Curated1
Sequence conflicti1459R → K in CAA81219 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84340 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84341 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84342 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84343 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84344 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84345 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84346 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84347 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84348 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84349 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84350 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84351 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA12174 (PubMed:9607315).Curated1
Sequence conflicti2205R → A in AAX37354 (PubMed:17071743).Curated1
Sequence conflicti2205R → A in AAX37355 (PubMed:17071743).Curated1
Sequence conflicti2205R → A in AAX37356 (PubMed:17071743).Curated1
Sequence conflicti2205R → G in AAA17030 (PubMed:1316612).Curated1
Isoform 26 (identifier: Q13936-26)
Sequence conflicti1573A → T in CAA84348 (PubMed:7959794).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07514828A → T in TS; only with cardiac manifestation; unknown pathological significance; increased channel activity. 1 Publication1
Natural variantiVAR_07514937G → R Polymorphism. 1 Publication1
Natural variantiVAR_04403939A → V in BRGDA3; loss of function. 1 Publication1
Natural variantiVAR_04598784Q → R.3 PublicationsCorresponds to variant rs1051345dbSNPEnsembl.1
Natural variantiVAR_075150304I → T Polymorphism. 1 Publication1
Natural variantiVAR_075151381P → S in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_045988391I → L.Corresponds to variant rs1051356dbSNPEnsembl.1
Natural variantiVAR_026741402G → S in TS. 1 Publication1
Natural variantiVAR_026742406G → R in TS; causes a nearly complete loss of voltage-dependent channel inactivation. 1 Publication1
Natural variantiVAR_075152456M → I in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_075153477E → K Polymorphism. 1 Publication1
Natural variantiVAR_044040490G → R in BRGDA3; loss of function. 1 Publication1
Natural variantiVAR_075154518R → C in TS; only with cardiac manifestation; decreased current density; associated with slower inactivation; altered localization. 1 Publication1
Natural variantiVAR_075155518R → H in TS; only with cardiac manifestation; decreased current density; associated with slower inactivation. 1 Publication1
Natural variantiVAR_075156582A → D in TS; only with cardiac manifestation; gain of function effect on channel activity; slower inactivation. 1 Publication1
Natural variantiVAR_001495752A → T.1
Natural variantiVAR_075157817P → S Polymorphism. 1 Publication1
Natural variantiVAR_076414850Missing Rare variant; found in a case of sudden unexplained death in the young; unknown pathological significance; results in reduced whole-cell calcium currents. 1 Publication1
Natural variantiVAR_075158858R → H in TS; only with cardiac manifestation; gain of function effect on channel activity; slower inactivation. 1 Publication1
Natural variantiVAR_075159860R → G in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_064700878S → R Found in a clear cell renal carcinoma case; somatic mutation. 1 Publication1
Natural variantiVAR_0723811186I → T in TS; electrophysiological phenotype, characterized by loss of current density and gain-of-function shift in activation leading to increased steady-state current; gain of function activity. 2 Publications1
Natural variantiVAR_0751601186I → V in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0751611365A → T Polymorphism. 1 Publication1
Natural variantiVAR_0751621523I → M in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0751631544E → K in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0751641755V → I Polymorphism. 1 Publication1
Natural variantiVAR_0751651765A → G Polymorphism. 1 Publication1
Natural variantiVAR_0751661787D → N Polymorphism. 1 Publication1
Natural variantiVAR_0751671800T → I in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication1
Natural variantiVAR_0751681831G → C in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_0751691835T → M Polymorphism. 1 Publication1
Natural variantiVAR_0751701843G → A Polymorphism. 1 Publication1
Natural variantiVAR_0592231868P → L.Corresponds to variant rs10848683dbSNPEnsembl.1
Natural variantiVAR_0592241869M → V.3 PublicationsCorresponds to variant rs10774053dbSNPEnsembl.1
Natural variantiVAR_0611021893K → R.3 PublicationsCorresponds to variant rs10774054dbSNPEnsembl.1
Natural variantiVAR_0751711948E → K Polymorphism. 1 Publication1
Natural variantiVAR_0751721953T → M in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication1
Natural variantiVAR_0751731972R → C Polymorphism. 1 Publication1
Natural variantiVAR_0751742056R → Q Polymorphism. 1 Publication1
Natural variantiVAR_0751752081T → N Polymorphism. 1 Publication1
Natural variantiVAR_0764152091A → S Rare variant; found in a case of sudden unexplained death in the young; unknown pathological significance; results in increased whole-cell calcium currents. 1 Publication1
Natural variantiVAR_0751762097V → I in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication1
Natural variantiVAR_0751772122A → G Polymorphism. 1 Publication1
Natural variantiVAR_0014962169A → T.1
Natural variantiVAR_0751782174N → S Polymorphism. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0008851 – 29Missing in isoform 16, isoform 17, isoform 18 and isoform 28. 3 PublicationsAdd BLAST29
Alternative sequenceiVSP_0351461 – 16MVNEN…EENHQ → MLRAFVQPGTPAYQPLPSHL SANTEVKFKGTLVHEAQLNY FYISPG in isoform 34. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_035877306 – 308Missing in isoform 35. 1 Publication3
Alternative sequenceiVSP_000886372 – 391VNDAV…TLIII → MQDAMGYELPWVYFVSLVIF in isoform 3, isoform 16, isoform 17, isoform 18, isoform 23, isoform 28, isoform 36 and isoform 37. 4 PublicationsAdd BLAST20
Alternative sequenceiVSP_000887932 – 951Missing in isoform 4, isoform 19, isoform 20, isoform 21, isoform 23, isoform 26, isoform 27, isoform 29, isoform 32 and isoform 33. 4 PublicationsAdd BLAST20
Alternative sequenceiVSP_000888952 – 971Missing in isoform 5, isoform 12, isoform 13, isoform 14, isoform 15, isoform 16, isoform 17, isoform 18, isoform 22, isoform 24, isoform 25, isoform 28, isoform 31, isoform 35, isoform 36 and isoform 37. 8 PublicationsAdd BLAST20
Alternative sequenceiVSP_0008891297 – 1324Missing in isoform 6, isoform 12, isoform 14, isoform 15, isoform 19, isoform 20, isoform 23, isoform 24, isoform 25, isoform 26, isoform 27, isoform 28, isoform 29, isoform 30 and isoform 33. 7 PublicationsAdd BLAST28
Alternative sequenceiVSP_0008901325 – 1352Missing in isoform 7, isoform 13, isoform 16, isoform 17, isoform 18, isoform 21, isoform 22, isoform 35, isoform 36 and isoform 37. 5 PublicationsAdd BLAST28
Alternative sequenceiVSP_0225031351 – 1363Missing in isoform 15. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_0008911353 – 1363Missing in isoform 8, isoform 19, isoform 25, isoform 28, isoform 29 and isoform 32. 4 PublicationsAdd BLAST11
Alternative sequenceiVSP_0225041363M → MGPSCSHPPLAVLTAPPVAD GFQ in isoform 14. 1 Publication1
Alternative sequenceiVSP_0008921618 – 1699LRIKT…NALSL → LREAELSSQVQYQAKEASLL ERRRKSSHPKSSTKPNKLLS SGGSTGWVEDARALEGQVLA RGCGWLGSLEERERGPHHPP LGF in isoform 9 and isoform 26. 1 PublicationAdd BLAST82
Alternative sequenceiVSP_0008931623E → EEGPSPSEAHQGAEDPFRPA in isoform 10, isoform 13, isoform 14, isoform 15, isoform 24, isoform 25, isoform 27 and isoform 29. 3 Publications1
Alternative sequenceiVSP_0008951864 – 1898Missing in isoform 11, isoform 12, isoform 13, isoform 14, isoform 15, isoform 17, isoform 19, isoform 20, isoform 21, isoform 22, isoform 23, isoform 24, isoform 25, isoform 26, isoform 27, isoform 29, isoform 30, isoform 31, isoform 32, isoform 35 and isoform 37. 8 Publications