No paralogue variants have been mapped to residue 161 for SCN5A.
| SCN5A | TILTNCVFMAQH------D-PPPWT--KYV>E<YTFTA-IYTFESLVKILARGFCLHAFTFLR | 190 |
| SCN1A | TILTNCVFMTMS------N-PPDWT--KNV>E<YTFTG-IYTFESLIKIIARGFCLEDFTFLR | 187 |
| SCN2A | TILTNCVFMTMS------N-PPDWT--KNV>E<YTFTG-IYTFESLIKILARGFCLEDFTFLR | 188 |
| SCN3A | TILTNCVFMTLS------N-PPDWT--KNV>E<YTFTG-IYTFESLIKILARGFCLEDFTFLR | 187 |
| SCN4A | TILTNCVFMTMS------D-PPPWS--KNV>E<YTFTG-IYTFESLIKILARGFCVDDFTFLR | 190 |
| SCN7A | SVLIDCVFMSLT------N-LPKWR--PVL>E<NTLLG-IYTFEILVKLFARGVWAGSFSFLG | 177 |
| SCN8A | TILTNCVFMTFS------N-PPDWS--KNV>E<YTFTG-IYTFESLVKIIARGFCIDGFTFLR | 191 |
| SCN9A | TILTNCIFMTMN------N-PPDWT--KNV>E<YTFTG-IYTFESLVKILARGFCVGEFTFLR | 185 |
| SCN10A | TILVNCVCMTRT------D-LPE-----KI>E<YVFTV-IYTFEALIKILARGFCLNEFTYLR | 186 |
| SCN11A | TVIINCVFMATGPA-K--NSNSNNT--DIA>E<CVFTG-IYIFEALIKILARGFILDEFSFLR | 192 |
| CACNA1A | TIIANCIVLALEQHLPDDDKTPMSERLDDT>E<PYFIG-IFCFEAGIKIIALGFAFHKGSYLR | 166 |
| CACNA1B | TIIANCIVLALEQHLPDGDKTPMSERLDDT>E<PYFIG-IFCFEAGIKIIALGFVFHKGSYLR | 163 |
| CACNA1C | TIFANCVALAIYIPFPEDDSNATNSNLERV>E<YLFLI-IFTVEAFLKVIAYGLLFHPNAYLR | 192 |
| CACNA1D | AIFANCVALAIYIPFPEDDSNSTNHNLEKV>E<YAFLI-IFTVETFLKIIAYGLLLHPNAYVR | 194 |
| CACNA1E | TIIANCIVLALEQHLPEDDKTPMSRRLEKT>E<PYFIG-IFCFEAGIKIVALGFIFHKGSYLR | 157 |
| CACNA1F | TIFANCVALGVYIPFPEDDSNTANHNLEQV>E<YVFLV-IFTVETVLKIVAYGLVLHPSAYIR | 160 |
| CACNA1G | VILLNCVTLGMFRPCEDIACDSQRCRILQA>F<DDFIFAFFAVEMVVKMVALGI-FGKKCYLG | 149 |
| CACNA1H | VIMLNCVTLGMFRPCEDVECGSERCNILEA>F<DAFIFAFFAVEMVIKMVALGL-FGQKCYLG | 168 |
| CACNA1I | VILLNCVTLGMYQPCDDMDCLSDRCKILQV>F<DDFIFIFFAMEMVLKMVALGI-FGKKCYLG | 147 |
| CACNA1S | TIFANCVALAVYLPMPEDDNNSLNLGLEKL>E<YFFLI-VFSIEAAMKIIAYGFLFHQDAYLR | 119 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E161K | c.481G>A | Inherited Arrhythmia | BrS | rs199473062 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol. 2002 40(2):350-6. 12106943 | ||
| Inherited Arrhythmia | BrS | A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J Mol Cell Cardiol. 2005 38(6):969-81. 15910881 | |||
| 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 | |||
| Inherited Arrhythmia | BrS | Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome. J Cardiovasc Electrophysiol. 2010 21(5):564-73. 20384651 | |||
| 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 | ||||
| Inherited Arrhythmia | BrS | Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. PLoS One. 2010 5(6):e10985. 20539757 | |||
| Inherited Arrhythmia | BrS | Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm. 2009 6(3):341-8. 19251209 | |||
| Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
| p.E161Q | c.481G>C | Inherited Arrhythmia | BrS | rs199473062 | SIFT: deleterious Polyphen: probably damaging |
| 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 | ||