SCN5A | ------------NLSALRTFRVLRALKTIS>V<IPGLKTIVGALIQSVKKLADVMVLTVFCLS | 262 |
SCN1A | ------------NVSALRTFRVLRALKTIS>V<IPGLKTIVGALIQSVKKLSDVMILTVFCLS | 259 |
SCN2A | ------------NVSALRTFRVLRALKTIS>V<IPGLKTIVGALIQSVKKLSDVMILTVFCLS | 260 |
SCN3A | ------------NVSALRTFRVLRALKTIS>V<IPGLKTIVGALIQSVKKLSDVMILTVFCLS | 259 |
SCN4A | ------------NISALRTFRVLRALKTIT>V<IPGLKTIVGALIQSVKKLSDVMILTVFCLS | 262 |
SCN7A | ------------FIPTLQTARTLRILKIIP>L<NQGLKSLVGVLIHCLKQLIGVIILTLFFLS | 249 |
SCN8A | ------------NVSALRTFRVLRALKTIS>V<IPGLKTIVGALIQSVKKLSDVMILTVFCLS | 263 |
SCN9A | ------------NVSALRTFRVLRALKTIS>V<IPGLKTIVGALIQSVKKLSDVMILTVFCLS | 257 |
SCN10A | ------------GISGLRTFRVLRALKTVS>V<IPGLKVIVGALIHSVKKLADVTILTIFCLS | 258 |
SCN11A | -----------IKLLPLRTFRVFRALKAIS>V<VSRLKVIVGALLRSVKKLVNVIILTFFCLS | 265 |
CACNA1A | ------------DLRTLRAVRVLRPLKLVS>G<IPSLQVVLKSIMKAMIPLLQIGLLLFFAIL | 238 |
CACNA1B | ------------DLRTLRAVRVLRPLKLVS>G<IPSLQVVLKSIMKAMVPLLQIGLLLFFAIL | 235 |
CACNA1C | GANALGGKGAGFDVKALRAFRVLRPLRLVS>G<VPSLQVVLNSIIKAMVPLLHIALLVLFVII | 280 |
CACNA1D | GGNHSSGKSGGFDVKALRAFRVLRPLRLVS>G<VPSLQVVLNSIIKAMVPLLHIALLVLFVII | 283 |
CACNA1E | ---------THVDLRTLRAVRVLRPLKLVS>G<IPSLQIVLKSIMKAMVPLLQIGLLLFFAIL | 233 |
CACNA1F | DAPHTGGKPGGFDVKALRAFRVLRPLRLVS>G<VPSLHIVLNSIMKALVPLLHIALLVLFVII | 249 |
CACNA1G | ----------NVSFSAVRTVRVLRPLRAIN>R<VPSMRILVTLLLDTLPMLGNVLLLCFFVFF | 223 |
CACNA1H | ----------NVSLSAIRTVRVLRPLRAIN>R<VPSMRILVTLLLDTLPMLGNVLLLCFFVFF | 242 |
CACNA1I | ----------NINLSAIRTVRVLRPLKAIN>R<VPSMRILVNLLLDTLPMLGNVLLLCFFVFF | 221 |
CACNA1S | HTAPMSSKGAGLDVKALRAFRVLRPLRLVS>G<VPSLQVVLNSIFKAMLPLFHIALLVLFMVI | 208 |
cons | > < | |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.V232I | c.694G>A |
Inherited Arrhythmia | BrS | rs45471994 | SIFT: tolerated Polyphen: possibly damaging |
Reports | Other Cardiac Phenotype | |
Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel. Circ Res. 2008 103(4):396-404.
18599870 |
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 | |
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 |
Other Cardiac Phenotype | |
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 |
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 |