Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 207 (13 Feb 2019)
Sequence version 2 (25 Nov 2008)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Sodium channel protein type 5 subunit alpha

Gene

SCN5A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient (PubMed:1309946, PubMed:21447824, PubMed:25370050, PubMed:23420830, PubMed:23085483, PubMed:26279430, PubMed:26392562, PubMed:26776555). It is a tetrodotoxin-resistant Na+ channel isoform (PubMed:1309946). This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels (PubMed:19074138).10 Publications

Miscellaneous

Na+ channels in mammalian cardiac membrane have functional properties quite distinct from Na+ channels in nerve and skeletal muscle.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalmodulin-binding, Ion channel, Sodium channel, Voltage-gated channel
Biological processIon transport, Sodium transport, Transport
LigandSodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q14524

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.1.10.3 the voltage-gated ion channel (vic) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sodium channel protein type 5 subunit alpha
Alternative name(s):
HH1
Sodium channel protein cardiac muscle subunit alpha
Sodium channel protein type V subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SCN5A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000183873.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10593 SCN5A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600163 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14524

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 131CytoplasmicCuratedAdd BLAST131
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei132 – 150Helical; Name=S1 of repeat IBy similarityAdd BLAST19
Topological domaini151 – 157ExtracellularCurated7
Transmembranei158 – 178Helical; Name=S2 of repeat IBy similarityAdd BLAST21
Topological domaini179 – 192CytoplasmicCuratedAdd BLAST14
Transmembranei193 – 210Helical; Name=S3 of repeat IBy similarityAdd BLAST18
Topological domaini211 – 216ExtracellularCurated6
Transmembranei217 – 233Helical; Name=S4 of repeat IBy similarityAdd BLAST17
Topological domaini234 – 252CytoplasmicCuratedAdd BLAST19
Transmembranei253 – 272Helical; Name=S5 of repeat IBy similarityAdd BLAST20
Topological domaini273 – 357ExtracellularCuratedAdd BLAST85
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei358 – 382Pore-formingBy similarityAdd BLAST25
Topological domaini383 – 389ExtracellularCurated7
Transmembranei390 – 410Helical; Name=S6 of repeat IBy similarityAdd BLAST21
Topological domaini411 – 717CytoplasmicCuratedAdd BLAST307
Transmembranei718 – 736Helical; Name=S1 of repeat IIBy similarityAdd BLAST19
Topological domaini737 – 747ExtracellularCuratedAdd BLAST11
Transmembranei748 – 767Helical; Name=S2 of repeat IIBy similarityAdd BLAST20
Topological domaini768 – 781CytoplasmicCuratedAdd BLAST14
Transmembranei782 – 801Helical; Name=S3 of repeat IIBy similarityAdd BLAST20
Topological domaini802 – 803ExtracellularCurated2
Transmembranei804 – 821Helical; Name=S4 of repeat IIBy similarityAdd BLAST18
Topological domaini822 – 837CytoplasmicCuratedAdd BLAST16
Transmembranei838 – 856Helical; Name=S5 of repeat IIBy similarityAdd BLAST19
Topological domaini857 – 883ExtracellularCuratedAdd BLAST27
Intramembranei884 – 904Pore-formingBy similarityAdd BLAST21
Topological domaini905 – 917ExtracellularCuratedAdd BLAST13
Transmembranei918 – 938Helical; Name=S6 of repeat IIBy similarityAdd BLAST21
Topological domaini939 – 1206CytoplasmicCuratedAdd BLAST268
Transmembranei1207 – 1224Helical; Name=S1 of repeat IIIBy similarityAdd BLAST18
Topological domaini1225 – 1237ExtracellularCuratedAdd BLAST13
Transmembranei1238 – 1256Helical; Name=S2 of repeat IIIBy similarityAdd BLAST19
Topological domaini1257 – 1270CytoplasmicCuratedAdd BLAST14
Transmembranei1271 – 1289Helical; Name=S3 of repeat IIIBy similarityAdd BLAST19
Topological domaini1290 – 1297ExtracellularCurated8
Transmembranei1298 – 1316Helical; Name=S4 of repeat IIIBy similarityAdd BLAST19
Topological domaini1317 – 1333CytoplasmicCuratedAdd BLAST17
Transmembranei1334 – 1353Helical; Name=S5 of repeat IIIBy similarityAdd BLAST20
Topological domaini1354 – 1405ExtracellularCuratedAdd BLAST52
Intramembranei1406 – 1427Pore-formingBy similarityAdd BLAST22
Topological domaini1428 – 1444ExtracellularCuratedAdd BLAST17
Transmembranei1445 – 1466Helical; Name=S6 of repeat IIIBy similarityAdd BLAST22
Topological domaini1467 – 1529CytoplasmicCuratedAdd BLAST63
Transmembranei1530 – 1547Helical; Name=S1 of repeat IVBy similarityAdd BLAST18
Topological domaini1548 – 1558ExtracellularCuratedAdd BLAST11
Transmembranei1559 – 1577Helical; Name=S2 of repeat IVBy similarityAdd BLAST19
Topological domaini1578 – 1589CytoplasmicCuratedAdd BLAST12
Transmembranei1590 – 1607Helical; Name=S3 of repeat IVBy similarityAdd BLAST18
Topological domaini1608 – 1620ExtracellularCuratedAdd BLAST13
Transmembranei1621 – 1637Helical; Name=S4 of repeat IVBy similarityAdd BLAST17
Topological domaini1638 – 1656CytoplasmicCuratedAdd BLAST19
Transmembranei1657 – 1674Helical; Name=S5 of repeat IVBy similarityAdd BLAST18
Topological domaini1675 – 1696ExtracellularCuratedAdd BLAST22
Intramembranei1697 – 1719Pore-formingBy similarityAdd BLAST23
Topological domaini1720 – 1748ExtracellularCuratedAdd BLAST29
Transmembranei1749 – 1771Helical; Name=S6 of repeat IVBy similarityAdd BLAST23
Topological domaini1772 – 2016CytoplasmicCuratedAdd BLAST245

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Progressive familial heart block 1A (PFHB1A)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.
See also OMIM:113900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026344161E → K in BRGDA1 and PFHB1A. 3 PublicationsCorresponds to variant dbSNP:rs199473062EnsemblClinVar.1
Natural variantiVAR_055164225R → W in PFHB1A, BRGDA1 and LQT3. 3 PublicationsCorresponds to variant dbSNP:rs199473072EnsemblClinVar.1
Natural variantiVAR_017671298G → S in PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance. 2 PublicationsCorresponds to variant dbSNP:rs137854608EnsemblClinVar.1
Natural variantiVAR_036662512T → I in PFHB1A; voltage-dependent activation and inactivation of the I-512 channel is shifted negatively by 8 to 9 mV and had enhanced slow activation and slower recovery from inactivation commpared to the wild-type channel; the double mutant R-558/I-512 channel shows that R-558 eliminates the negative shift induced by I-512 but only partially restores the kinetic abnormalities. 1 PublicationCorresponds to variant dbSNP:rs199473118EnsemblClinVar.1
Natural variantiVAR_017673514G → C in BRGDA1 and PFHB1A. 2 PublicationsCorresponds to variant dbSNP:rs137854606EnsemblClinVar.1
Natural variantiVAR_026361752G → R in BRGDA1 and PFHB1A. 3 PublicationsCorresponds to variant dbSNP:rs199473153EnsemblClinVar.1
Natural variantiVAR_0176791232R → W in BRGDA1 and PFHB1A. 3 PublicationsCorresponds to variant dbSNP:rs199473207EnsemblClinVar.1
Natural variantiVAR_0176831595D → N in PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3. 1 PublicationCorresponds to variant dbSNP:rs137854607EnsemblClinVar.1
Natural variantiVAR_0552011620T → K in LQT3 and PFHB1A. Corresponds to variant dbSNP:rs199473282EnsemblClinVar.1
Long QT syndrome 3 (LQT3)30 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
See also OMIM:603830
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0366609G → V in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473043EnsemblClinVar.1
Natural variantiVAR_07431218R → Q in BRGDA1 and LQT3; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs41311087EnsemblClinVar.1
Natural variantiVAR_02634127R → H in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473045EnsemblClinVar.1
Natural variantiVAR_07469530E → G in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473551EnsemblClinVar.1
Natural variantiVAR_05515943R → Q in LQT3; does not affect baseline kinetics of sodium currents; causes an unusual hyperpolarizing shift of the activation kinetics after lidocaine treatment. 2 PublicationsCorresponds to variant dbSNP:rs199473047EnsemblClinVar.1
Natural variantiVAR_07469648E → K in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473048EnsemblClinVar.1
Natural variantiVAR_07469752P → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473553EnsemblClinVar.1
Natural variantiVAR_07469853R → Q in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473049EnsemblClinVar.1
Natural variantiVAR_074699104R → G in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473055EnsemblClinVar.1
Natural variantiVAR_074700115S → G in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473057EnsemblClinVar.1
Natural variantiVAR_068326125V → L in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473059EnsemblClinVar.1
Natural variantiVAR_055162212L → P in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473070EnsemblClinVar.1
Natural variantiVAR_074332222R → Q in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant dbSNP:rs45546039EnsemblClinVar.1
Natural variantiVAR_036661225R → Q in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473071EnsemblClinVar.1
Natural variantiVAR_055164225R → W in PFHB1A, BRGDA1 and LQT3. 3 PublicationsCorresponds to variant dbSNP:rs199473072EnsemblClinVar.1
Natural variantiVAR_074334240V → M in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473076EnsemblClinVar.1
Natural variantiVAR_068327245Q → K in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473077EnsemblClinVar.1
Natural variantiVAR_074701247V → L in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473078EnsemblClinVar.1
Natural variantiVAR_074702275N → K in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473080EnsemblClinVar.1
Natural variantiVAR_074703289G → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473084EnsemblClinVar.1
Natural variantiVAR_074704340R → W in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473094EnsemblClinVar.1
Natural variantiVAR_026353367R → C in BRGDA1 and LQT3; express no current. 4 PublicationsCorresponds to variant dbSNP:rs199473097EnsemblClinVar.1
Natural variantiVAR_074705370T → M in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473099EnsemblClinVar.1
Natural variantiVAR_074706397I → T in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473105EnsemblClinVar.1
Natural variantiVAR_068328404L → Q in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473107EnsemblClinVar.1
Natural variantiVAR_055170406N → K in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473108EnsemblClinVar.1
Natural variantiVAR_074707409L → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473109EnsemblClinVar.1
Natural variantiVAR_068329411V → M in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs72549410EnsemblClinVar.1
Natural variantiVAR_074708413A → E in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473569EnsemblClinVar.1
Natural variantiVAR_074709413A → T in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473110EnsemblClinVar.1
Natural variantiVAR_074710429Missing in LQT3; unknown pathological significance. 1 Publication1
Natural variantiVAR_074711462E → A in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473114EnsemblClinVar.1
Natural variantiVAR_068330462E → K in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473572EnsemblClinVar.1
Natural variantiVAR_074712530F → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473120EnsemblClinVar.1
Natural variantiVAR_074713535R → Q in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473121EnsemblClinVar.1
Natural variantiVAR_074714569R → W in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473576EnsemblClinVar.1
Natural variantiVAR_074715571S → I in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473126EnsemblClinVar.1
Natural variantiVAR_055178572A → D in LQT3 and ATFB10. 2 PublicationsCorresponds to variant dbSNP:rs36210423EnsemblClinVar.1
Natural variantiVAR_074716572A → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs184442491EnsemblClinVar.1
Natural variantiVAR_074717572A → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs36210423EnsemblClinVar.1
Natural variantiVAR_074718573Q → E in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473127EnsemblClinVar.1
Natural variantiVAR_074361579G → R in LQT3; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs199473128EnsemblClinVar.1
Natural variantiVAR_055179586 – 587Missing in LQT3; unknown pathological significance. 1 Publication2
Natural variantiVAR_026358615G → E in LQT3 and BRGDA1; drug-induced LQT syndrome. 4 PublicationsCorresponds to variant dbSNP:rs12720452EnsemblClinVar.1
Natural variantiVAR_015682619L → F in LQT3 and BRGDA1. 3 PublicationsCorresponds to variant dbSNP:rs199473133EnsemblClinVar.1
Natural variantiVAR_068331637P → L in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473135EnsemblClinVar.1
Natural variantiVAR_036664639G → R in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473136EnsemblClinVar.1
Natural variantiVAR_068332648P → L in LQT3 and BRGDA1. 2 PublicationsCorresponds to variant dbSNP:rs45609733EnsemblClinVar.1
Natural variantiVAR_074719654E → K in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473138EnsemblClinVar.1
Natural variantiVAR_074720673L → P in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473141EnsemblClinVar.1
Natural variantiVAR_055181680R → H in LQT3. Corresponds to variant dbSNP:rs199473142EnsemblClinVar.1
Natural variantiVAR_074721689R → C in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473580EnsemblClinVar.1
Natural variantiVAR_074374689R → H in LQT3; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs199473145EnsemblClinVar.1
Natural variantiVAR_074376701P → L in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473147EnsemblClinVar.1
Natural variantiVAR_074722731T → I in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473150EnsemblClinVar.1
Natural variantiVAR_074723750Q → R in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473152EnsemblClinVar.1
Natural variantiVAR_074382772D → N in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473157EnsemblClinVar.1
Natural variantiVAR_074724816F → Y in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473162EnsemblClinVar.1
Natural variantiVAR_074725848I → F in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473166EnsemblClinVar.1
Natural variantiVAR_017675941S → N in LQT3; also in SIDS. 1 PublicationCorresponds to variant dbSNP:rs137854605EnsemblClinVar.1
Natural variantiVAR_074726960Q → K in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473590EnsemblClinVar.1
Natural variantiVAR_074727965R → L in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473181EnsemblClinVar.1
Natural variantiVAR_068333971R → C in LQT3. 1 PublicationCorresponds to variant dbSNP:rs61737825EnsemblClinVar.1
Natural variantiVAR_074728981C → F in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473591EnsemblClinVar.1
Natural variantiVAR_017676997A → S in LQT3; also found in patients with atrial fibrillation; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current. 3 PublicationsCorresponds to variant dbSNP:rs137854609EnsemblClinVar.1
Natural variantiVAR_0747291004C → R in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473183EnsemblClinVar.1
Natural variantiVAR_0263681053E → K in BRGDA1, ATFB10 and LQT3; abolishes binding to ANK3 and also prevents accumulation of SCN5A at cell surface sites in ventricular cardiomyocytes. 5 PublicationsCorresponds to variant dbSNP:rs137854617EnsemblClinVar.1
Natural variantiVAR_0683341069T → M in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473187EnsemblClinVar.1
Natural variantiVAR_0747301100A → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473192Ensembl.1
Natural variantiVAR_0099351114D → N in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473195Ensembl.1
Natural variantiVAR_0747311166D → N in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473594Ensembl.1
Natural variantiVAR_0176781193R → Q in BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential. 3 PublicationsCorresponds to variant dbSNP:rs41261344Ensembl.1
Natural variantiVAR_0747321199Y → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473202EnsemblClinVar.1
Natural variantiVAR_0747331212Missing in LQT3; unknown pathological significance. 1 Publication1
Natural variantiVAR_0263691225E → K in BRGDA1 and LQT3. 3 PublicationsCorresponds to variant dbSNP:rs199473204Ensembl.1
Natural variantiVAR_0683351231E → K in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473598EnsemblClinVar.1
Natural variantiVAR_0263721250F → L in LQT3; drug-induced LQT syndrome. 1 PublicationCorresponds to variant dbSNP:rs45589741Ensembl.1
Natural variantiVAR_0747341283L → M in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473216Ensembl.1
Natural variantiVAR_0551871295E → K in LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation. 1 PublicationCorresponds to variant dbSNP:rs199473218EnsemblClinVar.1
Natural variantiVAR_0089561304T → M in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473603Ensembl.1
Natural variantiVAR_0015771325N → S in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs28937317Ensembl.1
Natural variantiVAR_0747351326A → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473222EnsemblClinVar.1
Natural variantiVAR_0551891330A → P in LQT3. Corresponds to variant dbSNP:rs199473224EnsemblClinVar.1
Natural variantiVAR_0551901330A → T in LQT3. Corresponds to variant dbSNP:rs199473224EnsemblClinVar.1
Natural variantiVAR_0551911332P → L in LQT3 and BRGDA1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473225EnsemblClinVar.1
Natural variantiVAR_0366661333S → Y in LQT3 and SIDS. 2 PublicationsCorresponds to variant dbSNP:rs199473604Ensembl.1
Natural variantiVAR_0747361334I → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473226EnsemblClinVar.1
Natural variantiVAR_0747371338L → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473227Ensembl.1
Natural variantiVAR_0744411432R → S in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473246EnsemblClinVar.1
Natural variantiVAR_0683361458S → Y in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473253EnsemblClinVar.1
Natural variantiVAR_0747381472N → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473255Ensembl.1
Natural variantiVAR_0551941473F → C in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473256Ensembl.1
Natural variantiVAR_0683371481G → E in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473257Ensembl.1
Natural variantiVAR_0551951486F → L in LQT3. Corresponds to variant dbSNP:rs199473615Ensembl.1
Natural variantiVAR_0747391487M → L in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473258Ensembl.1
Natural variantiVAR_0747401488T → R in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473259Ensembl.1
Natural variantiVAR_0747411489E → D in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473616Ensembl.1
Natural variantiVAR_0747421493K → R in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473260EnsemblClinVar.1
Natural variantiVAR_0747431495Y → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473262EnsemblClinVar.1
Natural variantiVAR_0747451498M → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473264EnsemblClinVar.1
Natural variantiVAR_0099361501L → V in LQT3 and BRGDA1. 3 PublicationsCorresponds to variant dbSNP:rs199473266EnsemblClinVar.1
Natural variantiVAR_0015761505 – 1507Missing in LQT3. 2 Publications3
Natural variantiVAR_0747461505K → N in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473268Ensembl.1
Natural variantiVAR_0551971507 – 1509Missing in LQT3. 3
Natural variantiVAR_0747471532V → I in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473618Ensembl.1
Natural variantiVAR_0747481560L → F in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473619Ensembl.1
Natural variantiVAR_0747491593I → M in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473276Ensembl.1
Natural variantiVAR_0747501594F → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473277Ensembl.1
Natural variantiVAR_0747511596F → I in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473278EnsemblClinVar.1
Natural variantiVAR_0366671609S → W in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473622Ensembl.1
Natural variantiVAR_0552001617Missing in LQT3 and BRGDA1. 2 Publications1
Natural variantiVAR_0552011620T → K in LQT3 and PFHB1A. Corresponds to variant dbSNP:rs199473282EnsemblClinVar.1
Natural variantiVAR_0099371623R → L in LQT3. 3 PublicationsCorresponds to variant dbSNP:rs137854600Ensembl.1
Natural variantiVAR_0015781623R → Q in LQT3 and BRGDA1. 4 PublicationsCorresponds to variant dbSNP:rs137854600Ensembl.1
Natural variantiVAR_0747521626R → H in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473283EnsemblClinVar.1
Natural variantiVAR_0552021626R → P in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473283EnsemblClinVar.1
Natural variantiVAR_0552031644R → C in LQT3 and BRGDA1. 2 PublicationsCorresponds to variant dbSNP:rs199473287Ensembl.1
Natural variantiVAR_0015791644R → H in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs28937316EnsemblClinVar.1
Natural variantiVAR_0089581645T → M in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473288EnsemblClinVar.1
Natural variantiVAR_0747531650L → F in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473290Ensembl.1
Natural variantiVAR_0552051652M → R in LQT3. Corresponds to variant dbSNP:rs199473291Ensembl.1
Natural variantiVAR_0747541652M → T in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473291Ensembl.1
Natural variantiVAR_0552061660I → V in BRGDA1 and LQT3; the BRGDA1 patient is a compound heterozygote also carrying L-336; the presence of both mutations is necessary for phenotypic expression of the disease in this patient; complete loss of sodium currents due to defective channel trafficking to the plasma membrane. 3 Publications