No paralogue variants have been mapped to residue 1180 for SCN5A.
| SCN5A | --------------EDCFTEGCVRR-CPCC>A<VDTTQAP---GKVWWRLRKTCYHIVEHSWF | 1207 |
| SCN1A | --------------EACFTEGCVQR-FKCC>Q<INVEEGR---GKQWWNLRRTCFRIVEHNWF | 1220 |
| SCN2A | --------------EACFTEDCVRK-FKCC>Q<ISIEEGK---GKLWWNLRKTCYKIVEHNWF | 1210 |
| SCN3A | --------------EACFTEGCIKK-FPFC>Q<VSTEEGK---GKIWWNLRKTCYSIVEHNWF | 1208 |
| SCN4A | --------------EECFTEACVQR-WPCL>Y<VDISQGR---GKKWWTLRRACFKIVEHNWF | 1033 |
| SCN7A | --------------SKHLKNGCRRG-SSLG>Q<ISGASKK---GKIWQNIRKTCCKIVENNWF | 936 |
| SCN8A | --------------DACFTEGCVQR-FKCC>Q<VNIEEGL---GKSWWILRKTCFLIVEHNWF | 1200 |
| SCN9A | --------------EACFTDGCVWR-FSCC>Q<VNIESGK---GKIWWNIRKTCYKIVEHSWF | 1183 |
| SCN10A | --------------DDCFTEGCIRH-CPCC>K<LDTTKSP---WDVGWQVRKTCYRIVEHSWF | 1154 |
| SCN11A | --------------ERCLPKGFGCC-FPCC>S<VDKRKPP---WVIWWNLRKTCYQIVKHSWF | 1058 |
| CACNA1A | NKNANPDPLPKKEEEKKEEEEDDRGEDGPK>-<PMPPYSSMFILSTTNPLRRLCHYILNLRYF | 1246 |
| CACNA1B | SGNVD---LESQAEGKKEVEADDVMRSGPR>-<PIVPYSSMFCLSPTNLLRRFCHYIVTMRYF | 1153 |
| CACNA1C | ------H-----------------LKEKAV>-<PMPEASAFFIFSSNNRFRLQCHRIVNDTIF | 902 |
| CACNA1D | ------N-----------------MKEKIA>-<PIPEGSAFFILSKTNPIRVGCHKLINHHIF | 908 |
| CACNA1E | EAEI----REDEEEVEKKKQKKEKRETG-K>-<AMVPHSSMFIFSTTNPIRRACHYIVNLRYF | 1155 |
| CACNA1F | ------V-----------------PKEKVV>-<PIPEGSAFFCLSQTNPLRKGCHTLIHHHVF | 873 |
| CACNA1G | ------R-----------------LP-ACC>L<ERDSWSAY-IFPPQSRFRLLCHRIITHKMF | 1278 |
| CACNA1H | ------Y-----------------KP-QWC>R<SREAWALY-LFSPQNRFRVSCQKVITHKMF | 1296 |
| CACNA1I | ------Y-----------------KP-DWC>E<VREDWSVY-LFSPENRFRVLCQTIIAHKLF | 1172 |
| CACNA1S | ------Q-----------------LKEKAV>-<PIPEASSFFIFSPTNKIRVLCHRIVNATWF | 801 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A1180V | c.3539C>T | Cardiomyopathy | LQTS | rs41310765 | SIFT: deleterious Polyphen: benign |
| Reports | Other Cardiac Phenotype | Molecular and clinical characterization of a novel SCN5A mutation associated with atrioventricular block and dilated cardiomyopathy. Circ Arrhythm Electrophysiol. 2008 1(2):83-92. 19808398 | |||
| Other Cardiac Phenotype | A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. Circ Arrhythm Electrophysiol. 2012 5(1):163-72. 22247482 | ||||
| Inherited Arrhythmia | LQTS | The SCN5A Mutation A1180V is Associated With Electrocardiographic Features of LQT3. Pediatr Cardiol. 2013 23963187 | |||
| Cardiomyopathy | DCM | A1180V of cardiac sodium channel gene (SCN5A): is it a risk factor for dilated cardiomyopathy or just a common variant in Han Chinese? Dis Markers. 2013 35(5):531-5. doi: 10.1155/2013/659528. 24227891 | |||
| Cardiomyopathy | LQTS | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||