No paralogue variants have been mapped to residue 1406 for SCN5A.
| SCN5A | VNNKSQCESLNLTGE--LYWTKVKVNFDNV>G<AGYLALLQVATFKGWMDIMYAAVDSRGYEE | 1436 |
| SCN1A | VNNHTDCLKLIERNET-ARWKNVKVNFDNV>G<FGYLSLLQVATFKGWMDIMYAAVDSRNVEL | 1449 |
| SCN2A | VNNYSECKALIESNQT-ARWKNVKVNFDNV>G<LGYLSLLQVATFKGWMDIMYAAVDSRNVEL | 1439 |
| SCN3A | VNNLSDCQALGK--Q--ARWKNVKVNFDNV>G<AGYLALLQVATFKGWMDIMYAAVDSRDVKL | 1434 |
| SCN4A | VNNKSECESLMHTGQ--VRWLNVKVNYDNV>G<LGYLSLLQVATFKGWMDIMYAAVDSREKEE | 1261 |
| SCN7A | VMNKSRCESLLFNES--MLWENAKMNFDNV>G<NGFLSLLQVATFNGWITIMNSAIDSVAVNI | 1159 |
| SCN8A | VNNKTECEKLMEGNNTEIRWKNVKINFDNV>G<AGYLALLQVATFKGWMDIMYAAVDSRKPDE | 1430 |
| SCN9A | VPNRSECFALMNVSQN-VRWKNLKVNFDNV>G<LGYLSLLQVATFKGWTIIMYAAVDSVNVDK | 1412 |
| SCN10A | VNNKSDCKIQNSTGS--FFWVNVKVNFDNV>A<MGYLALLQVATFKGWMDIMYAAVDSREVNM | 1384 |
| SCN11A | ITNKSQCESGN------FSWINQKVNFDNV>G<NAYLALLQVATFKGWMDIIYAAVDSTEKEQ | 1274 |
| CACNA1A | LYEKNEVK----AR--DREWKKYEFHYDNV>L<WALLTLFTVSTGEGWPQVLKHSVDATFENQ | 1477 |
| CACNA1B | DYEKEEVE----AQ--PRQWKKYDFHYDNV>L<WALLTLFTVSTGEGWPMVLKHSVDATYEEQ | 1383 |
| CACNA1C | TYKDGEVDHP-IIQ--PRSWENSKFDFDNV>L<AAMMALFTVSTFEGWPELLYRSIDSHTEDK | 1132 |
| CACNA1D | LYKDGDVDSP-VVR--ERIWQNSDFNFDNV>L<SAMMALFTVSTFEGWPALLYKAIDSNGENI | 1138 |
| CACNA1E | DHEKNKME----VK--GREWKRHEFHYDNI>I<WALLTLFTVSTGEGWPQVLQHSVDVTEEDR | 1389 |
| CACNA1F | VYPDGDVSRP-LVR--ERLWVNSDFNFDNV>L<SAMMALFTVSTFEGWPALLYKAIDAYAEDH | 1103 |
| CACNA1G | ITNKSDCA----EA--SYRWVRHKYNFDNL>G<QALMSLFVLASKDGWVDIMYDGLDAVGVDQ | 1503 |
| CACNA1H | ISTKAQCR----AA--HYRWVRRKYNFDNL>G<QALMSLFVLSSKDGWVNIMYDGLDAVGVDQ | 1521 |
| CACNA1I | ITNRSDCM----AA--NYRWVHHKYNFDNL>G<QALMSLFVLASKDGWVNIMYNGLDAVAVDQ | 1397 |
| CACNA1S | VYKDGDPMQI-ELR--HREWVHSDFHFDNV>L<SAMMSLFTVSTFEGWPQLLYKAIDSNAEDV | 1031 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G1406E | c.4217G>A | Inherited Arrhythmia | BrS | rs199473609 | 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 | ||
| p.G1406R | c.4216G>A | Inherited Arrhythmia | BrS | rs199473240 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation. 2001 104(25):3081-6. 11748104 | ||
| 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 | |||
| p.G1406R | c.4216G>C | Inherited Arrhythmia | BrS | 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 | ||