No paralogue variants have been mapped to residue 1938 for SCN5A.
| SCN5A | S--LKHA-SFLFRQ---------QAGSGLS>E<EDAPEREGL-IAYVM--------------- | 1952 |
| SCN1A | T--VKQA-SFTYNK---------NKIKG-->G<ANLLIKEDM-IIDRI--------------- | 1964 |
| SCN2A | K--VKKV-SSIYKK---------DKGKE-->C<DGTPIKEDT-LIDKL--------------- | 1954 |
| SCN3A | R--LKNI-SSNYNK---------EAIKG-->R<IDLPIKQDM-IIDKL--------------- | 1949 |
| SCN4A | S--MKQA-SYMYRH---------SHDGS-->G<DDAPEKEGL-LANTM-SKMY---------- | 1780 |
| SCN7A | N--DKNT-SDIHMI---------DGDR--->-<DVHATKEGA-YFDKA--------------- | 1672 |
| SCN8A | G--FIC------------------------>-<-----KKTT-SNKLE--------------- | 1926 |
| SCN9A | N--VKNI-SSIYIK---------DGDRD-->-<DDLLNKKDM-AFDNV--------------- | 1926 |
| SCN10A | S--MALS-NTPCVP---------RAEEE-->-<AASLPDEGF-VAFTA--------------- | 1899 |
| SCN11A | T--KGDQ-G-D--Q---------------->-<------NDL-----E--------------- | 1763 |
| CACNA1A | --LQAMR-E---EQDRTPLMFQRMEPPS-->-<---PTQ-------EG-GP-G-------QNA | 2006 |
| CACNA1B | DQMQQAPGG---LS----QMGPVSLFHP-->-<---LKATLE-QT-QPAVLRGARVFLR-QKS | 1917 |
| CACNA1C | E--QGLV-GK--PS--------QRNALS-L>-<QAGLRTL-H-DIGPE-IRRA-------ISG | 1671 |
| CACNA1D | E--QGLV-GK-YPA--------KNTTIA-L>-<QAGLRTL-H-DIGPE-IRRA-------ISC | 1680 |
| CACNA1E | Q--RQQL-E---EQ-KNAPMFQRMEPSS-->-<---LPQ-------EI-IA-N-------AKA | 1917 |
| CACNA1F | E--KGLL-GN-DAA--------PSTSSA-L>-<QAGLRSL-Q-DLGPE-MRQA-------LTC | 1637 |
| CACNA1G | S--EPSC------------------SLA-->-<---LTD-------DSLP--------DDMHT | 2011 |
| CACNA1H | V--ASVH-SP-PAE-SCASLQIPLAVSS-->-<---PAR-------SGEPLHALSPRGTARSP | 2007 |
| CACNA1I | S--SILL-GD-DLS-LEDPTACPPGRKD-->-<---SKG-------ELDP-----PEPMRVGD | 1901 |
| CACNA1S | E--EYY--GY--RP--------KKDIVQ-I>-<QAGLRTI-EEEAAPE-ICRT-------VSG | 1576 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E1938K | c.5812G>A | Inherited Arrhythmia | BrS | rs199473329 | SIFT: tolerated Polyphen: benign |
| Reports | 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 | ||
| Other Cardiac Phenotype | Genetic mutation in Korean patients of sudden cardiac arrest as a surrogating marker of idiopathic ventricular arrhythmia. J Korean Med Sci. 2013 28(7):1021-6. doi: 10.3346/jkms.2013.28.7.1021. 23853484 | ||||
| Inherited Arrhythmia | BrS | Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164 | |||