No paralogue variants have been mapped to residue 212 for SCN5A.
| SCN5A | CLHAFTFLRDPWNWLDFSVIIMAYVSENIK>L<G-----------------NLSALRTFRVLR | 225 |
| SCN1A | CLEDFTFLRDPWNWLDFTVITFAYVTEFVD>L<G-----------------NVSALRTFRVLR | 222 |
| SCN2A | CLEDFTFLRDPWNWLDFTVITFAYVTEFVD>L<G-----------------NVSALRTFRVLR | 223 |
| SCN3A | CLEDFTFLRDPWNWLDFSVIVMAYVTEFVD>L<G-----------------NVSALRTFRVLR | 222 |
| SCN4A | CVDDFTFLRDPWNWLDFSVIMMAYLTEFVD>L<G-----------------NISALRTFRVLR | 225 |
| SCN7A | WAGSFSFLGDPWNWLDFSVTVFEVIIRYSP>L<D-----------------FIPTLQTARTLR | 212 |
| SCN8A | CIDGFTFLRDPWNWLDFSVIMMAYITEFVN>L<G-----------------NVSALRTFRVLR | 226 |
| SCN9A | CVGEFTFLRDPWNWLDFVVIVFAYLTEFVN>L<G-----------------NVSALRTFRVLR | 220 |
| SCN10A | CLNEFTYLRDPWNWLDFSVITLAYVGTAID>L<R-----------------GISGLRTFRVLR | 221 |
| SCN11A | ILDEFSFLRDPWNWLDSIVIGIAIVSYIPG>I<T----------------IKLLPLRTFRVFR | 228 |
| CACNA1A | AFHKGSYLRNGWNVMDFVVVLTGILATVGT>E<F-----------------DLRTLRAVRVLR | 201 |
| CACNA1B | VFHKGSYLRNGWNVMDFVVVLTGILATAGT>D<F-----------------DLRTLRAVRVLR | 198 |
| CACNA1C | LFHPNAYLRNGWNLLDFIIVVVGLFSAILE>Q<ATKA-DGANALGGKGAGFDVKALRAFRVLR | 243 |
| CACNA1D | LLHPNAYVRNGWNLLDFVIVIVGLFSVILE>Q<LTKETEGGNHSSGKSGGFDVKALRAFRVLR | 246 |
| CACNA1E | IFHKGSYLRNGWNVMDFIVVLSGILATAGT>H<FN-------------THVDLRTLRAVRVLR | 196 |
| CACNA1F | VLHPSAYIRNGWNLLDFIIVVVGLFSVLLE>Q<GPGRPGDAPHTGGKPGGFDVKALRAFRVLR | 212 |
| CACNA1G | -FGKKCYLGDTWNRLDFFIVIAGMLEYSLD>L<Q---------------NVSFSAVRTVRVLR | 186 |
| CACNA1H | -FGQKCYLGDTWNRLDFFIVVAGMMEYSLD>G<H---------------NVSLSAIRTVRVLR | 205 |
| CACNA1I | -FGKKCYLGDTWNRLDFFIVMAGMVEYSLD>L<Q---------------NINLSAIRTVRVLR | 184 |
| CACNA1S | LFHQDAYLRSGWNVLDFTIVFLGVFTVILE>Q<VNVIQSHTAPMSSKGAGLDVKALRAFRVLR | 171 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L212P | c.635T>C | Inherited Arrhythmia | LQTS | rs199473070 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms. Heart Rhythm. 2005 2(10):1128-34. 16188595 | |||
| Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
| Other Cardiac Phenotype | Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. PLoS One. 2010 5(6):e10985. 20539757 | ||||
| p.L212Q | c.635T>A | Inherited Arrhythmia | BrS | rs199473070 | 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 | ||