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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)LengthDescriptionGraphical viewFeature identifierActions
Sitei363 – 3631Calcium ion selectivity and permeability
Sitei706 – 7061Calcium ion selectivity and permeability
Sitei1135 – 11351Calcium ion selectivity and permeability
Sitei1464 – 14641Calcium ion selectivity and permeability

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi1553 – 156412By similarityAdd
BLAST

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 action potential Source: GO_Central
  • 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

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 124124CytoplasmicSequence analysisAdd
BLAST
Transmembranei125 – 14319Helical; Name=S1 of repeat ISequence analysisAdd
BLAST
Topological domaini144 – 16017ExtracellularSequence analysisAdd
BLAST
Transmembranei161 – 18121Helical; Name=S2 of repeat ISequence analysisAdd
BLAST
Topological domaini182 – 19312CytoplasmicSequence analysisAdd
BLAST
Transmembranei194 – 21219Helical; Name=S3 of repeat ISequence analysisAdd
BLAST
Topological domaini213 – 23220ExtracellularSequence analysisAdd
BLAST
Transmembranei233 – 25119Helical; Name=S4 of repeat ISequence analysisAdd
BLAST
Topological domaini252 – 27019CytoplasmicSequence analysisAdd
BLAST
Transmembranei271 – 29020Helical; Name=S5 of repeat ISequence analysisAdd
BLAST
Topological domaini291 – 38090ExtracellularSequence analysisAdd
BLAST
Transmembranei381 – 40525Helical; Name=S6 of repeat ISequence analysisAdd
BLAST
Topological domaini406 – 524119CytoplasmicSequence analysisAdd
BLAST
Transmembranei525 – 54319Helical; Name=S1 of repeat IISequence analysisAdd
BLAST
Topological domaini544 – 55815ExtracellularSequence analysisAdd
BLAST
Transmembranei559 – 57820Helical; Name=S2 of repeat IISequence analysisAdd
BLAST
Topological domaini579 – 5868CytoplasmicSequence analysis
Transmembranei587 – 60519Helical; Name=S3 of repeat IISequence analysisAdd
BLAST
Topological domaini606 – 61510ExtracellularSequence analysis
Transmembranei616 – 63419Helical; Name=S4 of repeat IISequence analysisAdd
BLAST
Topological domaini635 – 65319CytoplasmicSequence analysisAdd
BLAST
Transmembranei654 – 67320Helical; Name=S5 of repeat IISequence analysisAdd
BLAST
Topological domaini674 – 72855ExtracellularSequence analysisAdd
BLAST
Transmembranei729 – 75325Helical; Name=S6 of repeat IISequence analysisAdd
BLAST
Topological domaini754 – 900147CytoplasmicSequence analysisAdd
BLAST
Transmembranei901 – 91919Helical; Name=S1 of repeat IIISequence analysisAdd
BLAST
Topological domaini920 – 93516ExtracellularSequence analysisAdd
BLAST
Transmembranei936 – 95520Helical; Name=S2 of repeat IIISequence analysisAdd
BLAST
Topological domaini956 – 98732CytoplasmicSequence analysisAdd
BLAST
Transmembranei988 – 100619Helical; Name=S3 of repeat IIISequence analysisAdd
BLAST
Topological domaini1007 – 10137ExtracellularSequence analysis
Transmembranei1014 – 103219Helical; Name=S4 of repeat IIISequence analysisAdd
BLAST
Topological domaini1033 – 105119CytoplasmicSequence analysisAdd
BLAST
Transmembranei1052 – 107120Helical; Name=S5 of repeat IIISequence analysisAdd
BLAST
Topological domaini1072 – 116190ExtracellularSequence analysisAdd
BLAST
Transmembranei1162 – 118625Helical; Name=S6 of repeat IIISequence analysisAdd
BLAST
Topological domaini1187 – 123953CytoplasmicSequence analysisAdd
BLAST
Transmembranei1240 – 125819Helical; Name=S1 of repeat IVSequence analysisAdd
BLAST
Topological domaini1259 – 127315ExtracellularSequence analysisAdd
BLAST
Transmembranei1274 – 129320Helical; Name=S2 of repeat IVSequence analysisAdd
BLAST
Topological domaini1294 – 13018CytoplasmicSequence analysis
Transmembranei1302 – 132019Helical; Name=S3 of repeat IVSequence analysisAdd
BLAST
Topological domaini1321 – 137252ExtracellularSequence analysisAdd
BLAST
Transmembranei1373 – 139119Helical; Name=S4 of repeat IVSequence analysisAdd
BLAST
Topological domaini1392 – 141019CytoplasmicSequence analysisAdd
BLAST
Transmembranei1411 – 143020Helical; Name=S5 of repeat IVSequence analysisAdd
BLAST
Topological domaini1431 – 149969ExtracellularSequence analysisAdd
BLAST
Transmembranei1500 – 152425Helical; Name=S6 of repeat IVSequence analysisAdd
BLAST
Topological domaini1525 – 2221697CytoplasmicSequence analysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti28 – 281A → T in TS; only with cardiac manifestation; unknown pathological significance; increased channel activity. 1 Publication
VAR_075148
Natural varianti381 – 3811P → S in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication
VAR_075151
Natural varianti402 – 4021G → S in TS. 1 Publication
VAR_026741
Natural varianti406 – 4061G → R in TS; causes a nearly complete loss of voltage-dependent channel inactivation. 1 Publication
VAR_026742
Natural varianti456 – 4561M → I in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication
VAR_075152
Natural varianti518 – 5181R → C in TS; only with cardiac manifestation; decreased current density; associated with slower inactivation; altered localization. 1 Publication
VAR_075154
Natural varianti518 – 5181R → H in TS; only with cardiac manifestation; decreased current density; associated with slower inactivation. 1 Publication
VAR_075155
Natural varianti582 – 5821A → D in TS; only with cardiac manifestation; gain of function effect on channel activity; slower inactivation. 1 Publication
VAR_075156
Natural varianti858 – 8581R → H in TS; only with cardiac manifestation; gain of function effect on channel activity; slower inactivation. 1 Publication
VAR_075158
Natural varianti860 – 8601R → G in TS; only with cardiac manifestation; gain of function activity. 1 Publication
VAR_075159
Natural varianti1186 – 11861I → 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 Publications
VAR_072381
Natural varianti1186 – 11861I → V in TS; only with cardiac manifestation; gain of function activity. 1 Publication
VAR_075160
Natural varianti1523 – 15231I → M in TS; only with cardiac manifestation; gain of function activity. 1 Publication
VAR_075162
Natural varianti1544 – 15441E → K in TS; only with cardiac manifestation; gain of function activity. 1 Publication
VAR_075163
Natural varianti1800 – 18001T → I in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication
VAR_075167
Natural varianti1831 – 18311G → C in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication
VAR_075168
Natural varianti1953 – 19531T → M in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication
VAR_075172
Natural varianti2097 – 20971V → I in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication
VAR_075176
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391A → V in BRGDA3; loss of function. 1 Publication
VAR_044039
Natural varianti490 – 4901G → R in BRGDA3; loss of function. 1 Publication
VAR_044040

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi363 – 3631E → K: Loss of selectivity for divalent over monovalent cations. 1 Publication
Mutagenesisi954 – 9541G → F: Affects voltage-dependent inhibition by dihydropyridines; when associated with I-958. 1 Publication
Mutagenesisi958 – 9581Y → I: Affects voltage-dependent inhibition by dihydropyridines; when associated with F-954. 1 Publication
Mutagenesisi1135 – 11351E → K: Loss of selectivity for divalent over monovalent cations. 1 Publication
Mutagenesisi1464 – 14641E → K: Loss of selectivity for divalent over monovalent cations. 1 Publication

Keywords - Diseasei

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

Organism-specific databases

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

Chemistry

ChEMBLiCHEMBL2363032.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 22212221Voltage-dependent L-type calcium channel subunit alpha-1CPRO_0000053928Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi153 – 1531N-linked (GlcNAc...)Sequence analysis
Glycosylationi328 – 3281N-linked (GlcNAc...)Sequence analysis
Modified residuei469 – 4691PhosphoserineBy similarity
Modified residuei476 – 4761PhosphothreonineBy similarity
Modified residuei808 – 8081PhosphoserineBy similarity
Modified residuei815 – 8151PhosphoserineBy similarity
Glycosylationi1436 – 14361N-linked (GlcNAc...)Sequence analysis
Glycosylationi1487 – 14871N-linked (GlcNAc...)Sequence analysis
Modified residuei1535 – 15351Phosphoserine; by PKASequence analysis
Modified residuei1718 – 17181PhosphoserineBy similarity
Modified residuei1739 – 17391PhosphoserineBy similarity
Modified residuei1973 – 19731Phosphoserine; by PKASequence analysis
Modified residuei1981 – 19811Phosphoserine; by PKASequence analysis

Post-translational modificationi

Phosphorylation by PKA activates the channel.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ13936.
PaxDbiQ13936.
PRIDEiQ13936.

PTM databases

iPTMnetiQ13936.
PhosphoSiteiQ13936.

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

BgeeiQ13936.
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 similarity

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 interactions.
DIPiDIP-29589N.
IntActiQ13936. 4 interactions.
STRINGi9606.ENSP00000266376.

Chemistry

BindingDBiQ13936.

Structurei

Secondary structure

1
2221
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi48 – 6518Combined sources
Helixi429 – 44214Combined sources
Helixi1609 – 165143Combined sources
Turni1661 – 16633Combined sources
Helixi1666 – 168015Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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. Positions 419-447, 1608-1688.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13936.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati111 – 408298IAdd
BLAST
Repeati510 – 756247IIAdd
BLAST
Repeati887 – 1189303IIIAdd
BLAST
Repeati1226 – 1527302IVAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni428 – 44518Binding to the beta subunitBy similarityAdd
BLAST
Regioni1109 – 119991Dihydropyridine bindingBy similarityAdd
BLAST
Regioni1478 – 154669Dihydropyridine bindingBy similarityAdd
BLAST
Regioni1492 – 153544Phenylalkylamine bindingBy similarityAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi654 – 6607Poly-Leu
Compositional biasi768 – 7747Poly-Glu
Compositional biasi1167 – 11737Poly-Ile
Compositional biasi2084 – 20874Poly-Gly

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 AAA02500.2 differs from that shown. Reason: Frameshift at position 1844. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1072 – 10721K → Q in Z26272 (PubMed:7959794).Curated
Sequence conflicti1157 – 11571N → K in AAA58409 (PubMed:1653763).Curated
Sequence conflicti1244 – 12441L → P in AAA74590 (PubMed:1335957).Curated
Sequence conflicti1384 – 13841L → P in AAA74590 (PubMed:1335957).Curated
Sequence conflicti1412 – 14121A → V in AAI46847 (PubMed:15489334).Curated
Sequence conflicti1459 – 14591R → K in CAA81219 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA84340 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA84341 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA84342 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA84343 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA84344 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA84345 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA84346 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA84347 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA84348 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA84349 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA84350 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA84351 (PubMed:7959794).Curated
Sequence conflicti2205 – 22051R → A in CAA12174 (PubMed:9607315).Curated
Sequence conflicti2205 – 22051R → A in AAX37354 (PubMed:17071743).Curated
Sequence conflicti2205 – 22051R → A in AAX37355 (PubMed:17071743).Curated
Sequence conflicti2205 – 22051R → A in AAX37356 (PubMed:17071743).Curated
Sequence conflicti2205 – 22051R → G in AAA17030 (PubMed:1316612).Curated
Isoform 26 (identifier: Q13936-26)
Sequence conflicti1573 – 15731A → T in CAA84348 (PubMed:7959794).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti28 – 281A → T in TS; only with cardiac manifestation; unknown pathological significance; increased channel activity. 1 Publication
VAR_075148
Natural varianti37 – 371G → R Polymorphism. 1 Publication
VAR_075149
Natural varianti39 – 391A → V in BRGDA3; loss of function. 1 Publication
VAR_044039
Natural varianti84 – 841Q → R.3 Publications
Corresponds to variant rs1051345 [ dbSNP | Ensembl ].
VAR_045987
Natural varianti304 – 3041I → T Polymorphism. 1 Publication
VAR_075150
Natural varianti381 – 3811P → S in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication
VAR_075151
Natural varianti391 – 3911I → L.
Corresponds to variant rs1051356 [ dbSNP | Ensembl ].
VAR_045988
Natural varianti402 – 4021G → S in TS. 1 Publication
VAR_026741
Natural varianti406 – 4061G → R in TS; causes a nearly complete loss of voltage-dependent channel inactivation. 1 Publication
VAR_026742
Natural varianti456 – 4561M → I in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication
VAR_075152
Natural varianti477 – 4771E → K Polymorphism. 1 Publication
VAR_075153
Natural varianti490 – 4901G → R in BRGDA3; loss of function. 1 Publication
VAR_044040
Natural varianti518 – 5181R → C in TS; only with cardiac manifestation; decreased current density; associated with slower inactivation; altered localization. 1 Publication
VAR_075154
Natural varianti518 – 5181R → H in TS; only with cardiac manifestation; decreased current density; associated with slower inactivation. 1 Publication
VAR_075155
Natural varianti582 – 5821A → D in TS; only with cardiac manifestation; gain of function effect on channel activity; slower inactivation. 1 Publication
VAR_075156
Natural varianti752 – 7521A → T.
VAR_001495
Natural varianti817 – 8171P → S Polymorphism. 1 Publication
VAR_075157
Natural varianti858 – 8581R → H in TS; only with cardiac manifestation; gain of function effect on channel activity; slower inactivation. 1 Publication
VAR_075158
Natural varianti860 – 8601R → G in TS; only with cardiac manifestation; gain of function activity. 1 Publication
VAR_075159
Natural varianti878 – 8781S → R Found in a clear cell renal carcinoma case; somatic mutation. 1 Publication
VAR_064700
Natural varianti1186 – 11861I → 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 Publications
VAR_072381
Natural varianti1186 – 11861I → V in TS; only with cardiac manifestation; gain of function activity. 1 Publication
VAR_075160
Natural varianti1365 – 13651A → T Polymorphism. 1 Publication
VAR_075161
Natural varianti1523 – 15231I → M in TS; only with cardiac manifestation; gain of function activity. 1 Publication
VAR_075162
Natural varianti1544 – 15441E → K in TS; only with cardiac manifestation; gain of function activity. 1 Publication
VAR_075163
Natural varianti1755 – 17551V → I Polymorphism. 1 Publication
VAR_075164
Natural varianti1765 – 17651A → G Polymorphism. 1 Publication
VAR_075165
Natural varianti1787 – 17871D → N Polymorphism. 1 Publication
VAR_075166
Natural varianti1800 – 18001T → I in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication
VAR_075167
Natural varianti1831 – 18311G → C in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication
VAR_075168
Natural varianti1835 – 18351T → M Polymorphism. 1 Publication
VAR_075169
Natural varianti1843 – 18431G → A Polymorphism. 1 Publication
VAR_075170
Natural varianti1868 – 18681P → L.
Corresponds to variant rs10848683 [ dbSNP | Ensembl ].
VAR_059223
Natural varianti1869 – 18691M → V.3 Publications
Corresponds to variant rs10774053 [ dbSNP | Ensembl ].
VAR_059224
Natural varianti1893 – 18931K → R.3 Publications
Corresponds to variant rs10774054 [ dbSNP | Ensembl ].
VAR_061102
Natural varianti1948 – 19481E → K Polymorphism. 1 Publication
VAR_075171
Natural varianti1953 – 19531T → M in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication
VAR_075172
Natural varianti1972 – 19721R → C Polymorphism. 1 Publication
VAR_075173
Natural varianti2056 – 20561R → Q Polymorphism. 1 Publication
VAR_075174
Natural varianti2081 – 20811T → N Polymorphism. 1 Publication
VAR_075175
Natural varianti2097 – 20971V → I in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication
VAR_075176
Natural varianti2122 – 21221A → G Polymorphism. 1 Publication
VAR_075177
Natural varianti2169 – 21691A → T.
VAR_001496
Natural varianti2174 – 21741N → S Polymorphism. 1 Publication
VAR_075178

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2929Missing in isoform 16, isoform 17, isoform 18 and isoform 28. 3 PublicationsVSP_000885Add
BLAST
Alternative sequencei1 – 1616MVNEN…EENHQ → MLRAFVQPGTPAYQPLPSHL SANTEVKFKGTLVHEAQLNY FYISPG in isoform 34. 1 PublicationVSP_035146Add
BLAST
Alternative sequencei306 – 3083Missing in isoform 35. 1 PublicationVSP_035877
Alternative sequencei372 – 39120VNDAV…TLIII → MQDAMGYELPWVYFVSLVIF in isoform 3, isoform 16, isoform 17, isoform 18, isoform 23, isoform 28, isoform 36 and isoform 37. 4 PublicationsVSP_000886Add
BLAST
Alternative sequencei932 – 95120Missing in isoform 4, isoform 19, isoform 20, isoform 21, isoform 23, isoform 26, isoform 27, isoform 29, isoform 32 and isoform 33. 4 PublicationsVSP_000887Add
BLAST
Alternative sequencei952 – 97120Missing 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 PublicationsVSP_000888Add
BLAST
Alternative sequencei1297 – 132428Missing 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 PublicationsVSP_000889Add
BLAST
Alternative sequencei1325 – 135228Missing in isoform 7, isoform 13, isoform 16, isoform 17, isoform 18, isoform 21, isoform 22, isoform 35, isoform 36 and isoform 37. 5 PublicationsVSP_000890Add
BLAST
Alternative sequencei1351 – 136313Missing in isoform 15. 1 PublicationVSP_022503Add
BLAST
Alternative sequencei1353 – 136311Missing in isoform 8, isoform 19, isoform 25, isoform 28, isoform 29 and isoform 32. 4 PublicationsVSP_000891Add
BLAST
Alternative sequencei1363 – 13631M → MGPSCSHPPLAVLTAPPVAD GFQ in isoform 14. 1 PublicationVSP_022504
Alternative sequencei1618 – 169982LRIKT…NALSL → LREAELSSQVQYQAKEASLL ERRRKSSHPKSSTKPNKLLS SGGSTGWVEDARALEGQVLA RGCGWLGSLEERERGPHHPP LGF in isoform 9 and isoform 26. 1 PublicationVSP_000892Add
BLAST
Alternative sequencei1623 – 16231E → EEGPSPSEAHQGAEDPFRPA in isoform 10, isoform 13, isoform 14, isoform 15, isoform 24, isoform 25, isoform 27 and isoform 29. 3 PublicationsVSP_000893
Alternative sequencei1864 – 189835Missing 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 PublicationsVSP_000895Add
BLAST
Alternative sequencei1864 – 189734ERHVP…KANPS → MHCCDMLDGGTFPPALGPRR APPCLHQQLQGSLAGLREDT PCIVPGHASLCCSSRVGEWL PAGCTAPQHA in isoform 2, isoform 18 and isoform 28. 2 Publications