{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q14524","secondaryAccessions":["A5H1P8","A6N922","A6N923","B2RTU0","E7ET19","E9PEF3","E9PEK2","E9PFW7","Q59H93","Q75RX9","Q75RY0","Q86UR3","Q8IZC9","Q96J69"],"uniProtkbId":"SCN5A_HUMAN","entryAudit":{"firstPublicDate":"1998-12-15","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2008-11-25","entryVersion":247,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Sodium channel protein type 5 subunit alpha"}},"alternativeNames":[{"fullName":{"value":"Sodium channel protein cardiac muscle subunit alpha"}},{"fullName":{"value":"Sodium channel protein type V subunit alpha"}},{"fullName":{"value":"Voltage-gated sodium channel subunit alpha Nav1.5"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"1309946"}],"value":"hH1"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:10593"}],"value":"SCN5A"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9JJV9"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11234013"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11804990"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12569159"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1309946"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19074138"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21447824"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23085483"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23420830"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24167619"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25370050"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26279430"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26392562"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26776555"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33712541"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40768348"}],"value":"Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes (PubMed:33712541, PubMed:40768348). Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient (PubMed:33712541, PubMed:40768348). The influx of Na(+) ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:1309946, PubMed:21447824, PubMed:23085483, PubMed:23420830, PubMed:25370050, PubMed:26279430, PubMed:26392562, PubMed:26776555). Nav1.5 is the predominant sodium channel expressed in myocardial cells and it is responsible for the initial upstroke of the action potential in cardiac myocytes, thereby initiating the heartbeat (PubMed:11234013, PubMed:11804990, PubMed:12569159, PubMed:1309946). Required for normal electrical conduction including formation of the infranodal ventricular conduction system and normal action potential configuration, as a result of its interaction with XIRP2 (By similarity)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Na(+)(in) = Na(+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:34963"},{"database":"ChEBI","id":"CHEBI:29101"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11823453"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12569159"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1309946"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33712541"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40768348"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1309946"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19074138"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40768348"}],"value":"Channel inactivation is regulated by intracellular calcium levels (PubMed:19074138). It is a tetrodotoxin-resistant voltage-gated Na(+) channel (Nav) (PubMed:1309946, PubMed:40768348)"}],"commentType":"ACTIVITY REGULATION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15389"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9JJV9"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15217910"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15548568"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15579534"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19666841"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21167176"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21817159"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21994374"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22705208"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25370050"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26392562"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26721415"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"37117223"}],"value":"Interact with regulatory subunit SCN1B (PubMed:21994374). May not form the same regulatory interactions with beta subunits as other Navs do (By similarity). Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 (By similarity). Interacts with NEDD4, NEDD4L, WWP2 and GPD1L (PubMed:15217910, PubMed:15548568, PubMed:19666841). Interacts with CALM (PubMed:21167176, PubMed:22705208, PubMed:25370050). Interacts with FGF13; the interaction is direct and FGF13 may regulate SNC5A density at membranes and function (PubMed:21817159, PubMed:22705208, PubMed:26392562). May also interact with FGF12 and FGF14 (PubMed:26392562). Interacts with TMEM233 (PubMed:37117223). Interacts with the spider Jingzhaotoxin-I (AC P83974, AC B1P1B7, AC B1P1B8) (PubMed:26721415). Interacts with ANK3 (PubMed:15579534). Interacts with PKP2 (via N-terminus) (By similarity). Interacts with XIRP2; the interaction is required for normal action potential configuration in the heart (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q99767","geneName":"APBA2","intActId":"EBI-81711"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"P62158","geneName":"CALM3","intActId":"EBI-397435"},"numberOfExperiments":14,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q13557","geneName":"CAMK2D","intActId":"EBI-351018"},"numberOfExperiments":16,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q12959","geneName":"DLG1","intActId":"EBI-357481"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q15700","geneName":"DLG2","intActId":"EBI-80426"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q92796","geneName":"DLG3","intActId":"EBI-80440"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"P78352","geneName":"DLG4","intActId":"EBI-80389"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"P61328-2","geneName":"FGF12","intActId":"EBI-10699759"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q9Y3R0","geneName":"GRIP1","intActId":"EBI-5349621"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q9C0E4","geneName":"GRIP2","intActId":"EBI-949557"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q14005","geneName":"IL16","intActId":"EBI-2831580"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q8TBB1","geneName":"LNX1","intActId":"EBI-739832"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q8N448","geneName":"LNX2","intActId":"EBI-2340947"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q86UL8","geneName":"MAGI2","intActId":"EBI-311035"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"O75970","geneName":"MPDZ","intActId":"EBI-821405"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q8NI35","geneName":"PATJ","intActId":"EBI-724390"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q5T2W1","geneName":"PDZK1","intActId":"EBI-349819"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"P26045","geneName":"PTPN3","intActId":"EBI-1047946"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q13424","geneName":"SNTA1","intActId":"EBI-717191"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524","intActId":"EBI-726858"},"interactantTwo":{"uniProtKBAccession":"Q9P202","geneName":"WHRN","intActId":"EBI-310886"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524-3","intActId":"EBI-14276801"},"interactantTwo":{"uniProtKBAccession":"Q49AR9","geneName":"ANKS1A","intActId":"EBI-11954519"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524-3","intActId":"EBI-14276801"},"interactantTwo":{"uniProtKBAccession":"Q8N9N5-2","geneName":"BANP","intActId":"EBI-11524452"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524-3","intActId":"EBI-14276801"},"interactantTwo":{"uniProtKBAccession":"Q9Y3B6","geneName":"EMC9","intActId":"EBI-748366"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524-3","intActId":"EBI-14276801"},"interactantTwo":{"uniProtKBAccession":"Q8WW24","geneName":"TEKT4","intActId":"EBI-750487"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q14524-3","intActId":"EBI-14276801"},"interactantTwo":{"uniProtKBAccession":"Q96E35","geneName":"ZMYND19","intActId":"EBI-746595"},"numberOfExperiments":4,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15389"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21447824"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23420830"}],"value":"RANGRF promotes trafficking to the cell membrane. Colocalizes with PKP2 at intercalated disks in the heart (By similarity)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1309946"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19074138"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21447824"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23085483"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23420830"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25370050"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26279430"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33712541"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40768348"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21447824"}],"value":"Cytoplasm, perinuclear region","id":"SL-0198"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15389"}],"value":"Cell membrane, sarcolemma, T-tubule","id":"SL-0505"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15389"}],"value":"Cell junction","id":"SL-0038"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"synonyms":[{"value":"CAG-inclusive variant"},{"value":"Nav1.5c"}],"isoformIds":["Q14524-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"synonyms":[{"value":"Nav1.5b"}],"isoformIds":["Q14524-2"],"sequenceIds":["VSP_037478"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q14524-3"],"sequenceIds":["VSP_037477","VSP_037478","VSP_037481"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"synonyms":[{"value":"Nav1.5e"},{"value":"neonatal"}],"isoformIds":["Q14524-4"],"sequenceIds":["VSP_037477"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"synonyms":[{"value":"Ex18del"},{"value":"Nav1.5a"}],"isoformIds":["Q14524-5"],"sequenceIds":["VSP_037477","VSP_037479"],"isoformSequenceStatus":"Described"},{"name":{"value":"6"},"synonyms":[{"value":"Ex24del"},{"value":"Nav1.5f"}],"isoformIds":["Q14524-6"],"sequenceIds":["VSP_037477","VSP_037480"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12358675"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1309946"}],"value":"Found in jejunal circular smooth muscle cells (at protein level). Expressed in human atrial and ventricular cardiac muscle but not in adult skeletal muscle, brain, myometrium, liver, or spleen. Isoform 4 is expressed in brain"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33712541"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40768348"},{"evidenceCode":"ECO:0000305"}],"value":"The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged segment (S4) (PubMed:33712541, PubMed:40768348). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21167176"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22705208"}],"value":"The IQ domain mediates association with calmodulin"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15217910"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15548568"}],"value":"Ubiquitinated by NEDD4L; which promotes its endocytosis. Does not seem to be ubiquitinated by NEDD4 or WWP2"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9JJV9"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"19666841"}],"value":"Phosphorylation at Ser-1503 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents (Probable). Regulated through phosphorylation by CaMK2D (By similarity)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15389"}],"value":"Lacks the cysteine which covalently binds the conotoxin GVIIJ. This cysteine (position 868) is speculated in other sodium channel subunits alpha to be implied in covalent binding with the sodium channel subunit beta-2 or beta-4"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15389"}],"value":"N-glycosylated at Asn-318, probably hinders potential interaction with regulatory subunits"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Progressive familial heart block 1A","diseaseAccession":"DI-00948","acronym":"PFHB1A","description":"A 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.","diseaseCrossReference":{"database":"MIM","id":"113900"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11234013"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11804990"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12569159"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12574143"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19251209"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23420830"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Long QT syndrome 3","diseaseAccession":"DI-00681","acronym":"LQT3","description":"A 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.","diseaseCrossReference":{"database":"MIM","id":"603830"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10377081"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10508990"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10590249"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10627139"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10911008"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10973849"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11304498"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11410597"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11535573"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11710892"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11889015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11997281"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12209021"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12454206"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12673799"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15840476"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16414944"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16922724"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18060054"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18378609"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18451998"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18708744"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18848812"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18929331"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19027780"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19716085"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26392562"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7651517"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7889574"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8541846"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9506831"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9686753"},{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.39"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Brugada syndrome 1","diseaseAccession":"DI-00202","acronym":"BRGDA1","description":"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.","diseaseCrossReference":{"database":"MIM","id":"601144"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10532948"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10618304"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10690282"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11410597"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11748104"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11823453"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11901046"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12051963"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12106943"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15023552"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15338453"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15579534"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15851320"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16266370"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16325048"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16616735"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17075016"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17081365"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17198989"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18252757"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18341814"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18451998"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18456723"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18616619"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19027780"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19251209"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19272188"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20129283"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23085483"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23420830"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24167619"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26279430"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26776555"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32850980"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9521325"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Sick sinus syndrome 1","diseaseAccession":"DI-01028","acronym":"SSS1","description":"The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. 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