SCN5A | SENIKLG-----------------NLSALR>T<FRVLRALKTISVIPGLKTIVGALIQSVKKL | 250 |
SCN1A | TEFVDLG-----------------NVSALR>T<FRVLRALKTISVIPGLKTIVGALIQSVKKL | 247 |
SCN2A | TEFVDLG-----------------NVSALR>T<FRVLRALKTISVIPGLKTIVGALIQSVKKL | 248 |
SCN3A | TEFVDLG-----------------NVSALR>T<FRVLRALKTISVIPGLKTIVGALIQSVKKL | 247 |
SCN4A | TEFVDLG-----------------NISALR>T<FRVLRALKTITVIPGLKTIVGALIQSVKKL | 250 |
SCN7A | IRYSPLD-----------------FIPTLQ>T<ARTLRILKIIPLNQGLKSLVGVLIHCLKQL | 237 |
SCN8A | TEFVNLG-----------------NVSALR>T<FRVLRALKTISVIPGLKTIVGALIQSVKKL | 251 |
SCN9A | TEFVNLG-----------------NVSALR>T<FRVLRALKTISVIPGLKTIVGALIQSVKKL | 245 |
SCN10A | GTAIDLR-----------------GISGLR>T<FRVLRALKTVSVIPGLKVIVGALIHSVKKL | 246 |
SCN11A | SYIPGIT----------------IKLLPLR>T<FRVFRALKAISVVSRLKVIVGALLRSVKKL | 253 |
CACNA1A | ATVGTEF-----------------DLRTLR>A<VRVLRPLKLVSGIPSLQVVLKSIMKAMIPL | 226 |
CACNA1B | ATAGTDF-----------------DLRTLR>A<VRVLRPLKLVSGIPSLQVVLKSIMKAMVPL | 223 |
CACNA1C | SAILEQATKA-DGANALGGKGAGFDVKALR>A<FRVLRPLRLVSGVPSLQVVLNSIIKAMVPL | 268 |
CACNA1D | SVILEQLTKETEGGNHSSGKSGGFDVKALR>A<FRVLRPLRLVSGVPSLQVVLNSIIKAMVPL | 271 |
CACNA1E | ATAGTHFN-------------THVDLRTLR>A<VRVLRPLKLVSGIPSLQIVLKSIMKAMVPL | 221 |
CACNA1F | SVLLEQGPGRPGDAPHTGGKPGGFDVKALR>A<FRVLRPLRLVSGVPSLHIVLNSIMKALVPL | 237 |
CACNA1G | EYSLDLQ---------------NVSFSAVR>T<VRVLRPLRAINRVPSMRILVTLLLDTLPML | 211 |
CACNA1H | EYSLDGH---------------NVSLSAIR>T<VRVLRPLRAINRVPSMRILVTLLLDTLPML | 230 |
CACNA1I | EYSLDLQ---------------NINLSAIR>T<VRVLRPLKAINRVPSMRILVNLLLDTLPML | 209 |
CACNA1S | TVILEQVNVIQSHTAPMSSKGAGLDVKALR>A<FRVLRPLRLVSGVPSLQVVLNSIFKAMLPL | 196 |
cons | > < | |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.T220I | c.659C>T |
Conflict | | rs45620037 | SIFT: deleterious Polyphen: probably damaging |
Reports | Other Cardiac Phenotype | |
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest. 2003 112(7):1019-28.
14523039 |
Cardiomyopathy | DCM |
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA. 2005 293(4):447-54.
15671429 |
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 | |
Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome. Circ Res. 2010 107(1):126-37.
20448214 |
Other Cardiac Phenotype | |
Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. PLoS One. 2010 5(6):e10985.
20539757 |
Inherited Arrhythmia | AF |
High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circ Cardiovasc Genet. 2012 5(4):450-9. doi: 10.1161/CIRCGENETICS.111.962597.
22685113 |
Other Cardiac Phenotype | |
High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013
23414114 |
Other Cardiac Phenotype | |
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006.
24055113 |
Inherited Arrhythmia | BrS |
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917.
24136861 |
Other Disease Phenotype | |
Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome. Gastroenterology. 2014 146(7):1659-68. doi: 10.1053/j.gastro.2014.02.054.
24613995 |
Other Cardiac Phenotype | |
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med. 2014 16(10):741-50. doi: 10.1038/gim.2014.29.
24784157 |
Other Cardiac Phenotype | |
Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease. J Pediatr. 2014 165(5):1050-2. doi: 10.1016/j.jpeds.2014.07.036.
25171853 |
Unknown | |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114.
25637381 |
Unknown | |
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387.
25351510 |
Other Cardiac Phenotype | |
Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel. PLoS One. 2015 10(12):e0143588. doi: 10.1371/journal.pone.0143588
26636822 |