No paralogue variants have been mapped to residue 1935 for SCN5A.
| SCN5A | LQRS--LKHA-SFLFRQ---------QAGS>G<LSEEDAPEREGL-IAYVM------------ | 1952 |
| SCN1A | LKRT--VKQA-SFTYNK---------NKIK>G<--GANLLIKEDM-IIDRI------------ | 1964 |
| SCN2A | LKQK--VKKV-SSIYKK---------DKGK>E<--CDGTPIKEDT-LIDKL------------ | 1954 |
| SCN3A | LKQR--LKNI-SSNYNK---------EAIK>G<--RIDLPIKQDM-IIDKL------------ | 1949 |
| SCN4A | LQRS--MKQA-SYMYRH---------SHDG>S<--GDDAPEKEGL-LANTM-SKMY------- | 1780 |
| SCN7A | LRRN--DKNT-SDIHMI---------DGDR>-<---DVHATKEGA-YFDKA------------ | 1672 |
| SCN8A | ARRG--FIC--------------------->-<--------KKTT-SNKLE------------ | 1926 |
| SCN9A | LRQN--VKNI-SSIYIK---------DGDR>D<---DDLLNKKDM-AFDNV------------ | 1926 |
| SCN10A | LHRS--MALS-NTPCVP---------RAEE>E<---AASLPDEGF-VAFTA------------ | 1899 |
| SCN11A | MKVT--KGDQ-G-D--Q------------->-<---------NDL-----E------------ | 1763 |
| CACNA1A | AKK--LQAMR-E---EQDRTPLMFQRMEPP>S<------PTQ-------EG-GP-G------- | 2003 |
| CACNA1B | TTRDQMQQAPGG---LS----QMGPVSLFH>P<------LKATLE-QT-QPAVLRGARVFLR- | 1914 |
| CACNA1C | KRKE--QGLV-GK--PS--------QRNAL>S<-L-QAGLRTL-H-DIGPE-IRRA------- | 1668 |
| CACNA1D | KRKE--QGLV-GK-YPA--------KNTTI>A<-L-QAGLRTL-H-DIGPE-IRRA------- | 1677 |
| CACNA1E | VKKQ--RQQL-E---EQ-KNAPMFQRMEPS>S<------LPQ-------EI-IA-N------- | 1914 |
| CACNA1F | RRKE--KGLL-GN-DAA--------PSTSS>A<-L-QAGLRSL-Q-DLGPE-MRQA------- | 1634 |
| CACNA1G | EIVS--EPSC------------------SL>A<------LTD-------DSLP--------DD | 2008 |
| CACNA1H | LGSV--ASVH-SP-PAE-SCASLQIPLAVS>S<------PAR-------SGEPLHALSPRGTA | 2004 |
| CACNA1I | DRSS--SILL-GD-DLS-LEDPTACPPGRK>D<------SKG-------ELDP-----PEPMR | 1898 |
| CACNA1S | KRQE--EYY--GY--RP--------KKDIV>Q<-I-QAGLRTI-EEEAAPE-ICRT------- | 1573 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G1935S | c.5803G>A | Inherited Arrhythmia | LQTS,BrS | rs199473637 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | BrS | Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study. Circulation. 2005 112(18):2769-77. 16267250 | ||
| Inherited Arrhythmia | LQTS | Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008 29(13):1670-80. 18508782 | |||
| Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | |||