No paralogue variants have been mapped to residue 270 for SCN5A.
| SCN5A | VGALIQSVKKLADVMVLTVFCLSVFALIGL>Q<LFMGNLRHKCVR------------------ | 282 |
| SCN1A | VGALIQSVKKLSDVMILTVFCLSVFALIGL>Q<LFMGNLRNKCIQ-WP-PTNASLEEH-SI-E | 293 |
| SCN2A | VGALIQSVKKLSDVMILTVFCLSVFALIGL>Q<LFMGNLRNKCLQ-WP-PDNSSFEIN-ITSF | 295 |
| SCN3A | VGALIQSVKKLSDVMILTVFCLSVFALIGL>Q<LFMGNLRNKCLQ-WP-PSDSAFETN-TTSY | 294 |
| SCN4A | VGALIQSVKKLSDVMILTVFCLSVFALVGL>Q<LFMGNLRQKCVR-WP-PPFN--DTN-TTWY | 295 |
| SCN7A | VGVLIHCLKQLIGVIILTLFFLSIFSLIGM>G<LFMGNLKHKCFR-WP-QENE---------- | 275 |
| SCN8A | VGALIQSVKKLSDVMILTVFCLSVFALIGL>Q<LFMGNLRNKCVV-WP--------------- | 285 |
| SCN9A | VGALIQSVKKLSDVMILTVFCLSVFALIGL>Q<LFMGNLKHKCFR-NS--------------- | 279 |
| SCN10A | VGALIHSVKKLADVTILTIFCLSVFALVGL>Q<LFKGNLKNKCVK-N---------------- | 279 |
| SCN11A | VGALLRSVKKLVNVIILTFFCLSIFALVGQ>Q<LFMGSLNLKCIS-R---------------- | 286 |
| CACNA1A | LKSIMKAMIPLLQIGLLLFFAILIFAIIGL>E<FYMGKFHTTCFE-E-GTD------------ | 262 |
| CACNA1B | LKSIMKAMVPLLQIGLLLFFAILMFAIIGL>E<FYMGKFHKACFP-N-STD------------ | 259 |
| CACNA1C | LNSIIKAMVPLLHIALLVLFVIIIYAIIGL>E<LFMGKMHKTCYNQEGIAD------------ | 306 |
| CACNA1D | LNSIIKAMVPLLHIALLVLFVIIIYAIIGL>E<LFIGKMHKTCFF-A-DSD------------ | 307 |
| CACNA1E | LKSIMKAMVPLLQIGLLLFFAILMFAIIGL>E<FYSGKLHRACFM-N-NSG------------ | 257 |
| CACNA1F | LNSIMKALVPLLHIALLVLFVIIIYAIIGL>E<LFLGRMHKTCYF-L-GSD------------ | 273 |
| CACNA1G | VTLLLDTLPMLGNVLLLCFFVFFIFGIVGV>Q<LWAGLLRNRCFL-P-ENFSLPLSVD-LE-R | 257 |
| CACNA1H | VTLLLDTLPMLGNVLLLCFFVFFIFGIVGV>Q<LWAGLLRNRCFL-D-SAFVRNNNLTFLR-P | 277 |
| CACNA1I | VNLLLDTLPMLGNVLLLCFFVFFIFGIIGV>Q<LWAGLLRNRCFL-E-ENFTIQGDVA-LP-P | 255 |
| CACNA1S | LNSIFKAMLPLFHIALLVLFMVIIYAIIGL>E<LFKGKMHKTCYF-I-GTD------------ | 232 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q270K | c.808C>A | Inherited Arrhythmia | BrS | rs199473079 | SIFT: deleterious Polyphen: possibly 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 | ||
| Inherited Arrhythmia | BrS | Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A. Can J Physiol Pharmacol. 2011 89(10):723-36. 21895525 | |||
| Other Cardiac Phenotype | Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. Circulation. 2012 125(1):14-22. doi: 10.1161/CIRCULATIONAHA.111.0540 22090166 | ||||