| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN4A | R672S | Hypokalaemic periodic paralysis | High | 9 | 11558801, 18824591 |
| SCN4A | R672G | Hypokalaemic periodic paralysis | High | 9 | 10944223, 17330043, 18824591, 19225109, 20660662, 25024265 |
| SCN4A | R672C | Hypokalaemic periodic paralysis | High | 9 | 15482957, 18824591 |
| SCN4A | R672H | Hypokalaemic periodic paralysis | High | 9 | 10944223, 23019082, 18824591, 19225109, 20660662 |
| SCN1A | R862Q | Dravet syndrome C ? | High | 9 | 21248271, 20110217 |
| SCN1A | R862G | Migrating partial seizures of infancy | High | 9 | 21753172 |
| SCN1A | R862X | Generalized epilepsy with febrile seizures plus | High | 9 | 19522081, 23195492, 24168886, 25525159 |
| SCN2A | R853Q | West syndrome | High | 9 | 23935176, 23934111 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.
| SCN5A | SIIVILSLMELGLSRMS-----NLSVLRSF>R<LLRVFKLAKSWPTLNTLIKIIGNSVGALGN | 841 |
| SCN1A | GFIVTLSLVELGLANVE-----GLSVLRSF>R<LLRVFKLAKSWPTLNMLIKIIGNSVGALGN | 892 |
| SCN2A | GFIVSLSLMELGLANVE-----GLSVLRSF>R<LLRVFKLAKSWPTLNMLIKIIGNSVGALGN | 883 |
| SCN3A | GIIVSLSLMELGLSNVE-----GLSVLRSF>R<LLRVFKLAKSWPTLNMLIKIIGNSVGALGN | 884 |
| SCN4A | SIIVTLSLVELGLANVQ-----GLSVLRSF>R<LLRVFKLAKSWPTLNMLIKIIGNSVGALGN | 702 |
| SCN7A | SMIVFHGLIELCLANVA-----GMALLRLF>R<MLRIFKLGKYWPTFQILMWSLSNSWVALKD | 629 |
| SCN8A | GFIVSLSLMELSLADVE-----GLSVLRSF>R<LLRVFKLAKSWPTLNMLIKIIGNSVGALGN | 877 |
| SCN9A | SLIVTLSLVELFLADVE-----GLSVLRSF>R<LLRVFKLAKSWPTLNMLIKIIGNSVGALGN | 857 |
| SCN10A | CIIVTVSLLELGVAKKG-----SLSVLRSF>R<LLRVFKLAKSWPTLNTLIKIIGNSVGALGN | 789 |
| SCN11A | SIVALLSFADVMNCVLQKR---SWPFLRSF>R<VLRVFKLAKSWPTLNTLIKIIGNSVGALGS | 703 |
| CACNA1A | CGVIIGSIFEVIWAVIKPGTSFGISVLRAL>R<LLRIFKVTKYWASLRNLVVSLLNSMKSIIS | 616 |
| CACNA1B | FGVIVGSVFEVVWAAIKPGSSFGISVLRAL>R<LLRIFKVTKYWSSLRNLVVSLLNSMKSIIS | 612 |
| CACNA1C | CFVVCGGILETILVETKIMSPLGISVLRCV>R<LLRIFKITRYWNSLSNLVASLLNSVRSIAS | 653 |
| CACNA1D | CFVVCGGITETILVELEIMSPLGISVFRCV>R<LLRIFKVTRHWTSLSNLVASLLNSMKSIAS | 672 |
| CACNA1E | FGVTVGSIFEVVWAIFRPGTSFGISVLRAL>R<LLRIFKITKYWASLRNLVVSLMSSMKSIIS | 605 |
| CACNA1F | CFVVCGGILETTLVEVGAMQPLGISVLRCV>R<LLRIFKVTRHWASLSNLVASLLNSMKSIAS | 658 |
| CACNA1G | GVIVVISVWEIVGQQGG-----GLSVLRTF>R<LMRVLKLVRFLPALQRQLVVLMKTMDNVAT | 867 |
| CACNA1H | GIIVVISVWEIVGQADG-----GLSVLRTF>R<LLRVLKLVRFLPALRRQLVVLVKTMDNVAT | 917 |
| CACNA1I | SIIVIISIWEIVGQADG-----GLSVLRTF>R<LLRVLKLVRFMPALRRQLVVLMKTMDNVAT | 764 |
| CACNA1S | CFVVCSGILEILLVESGAMTPLGISVLRCI>R<LLRIFKITKYWTSLSNLVASLLNSIRSIAS | 561 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R811H | c.2432G>A | Inherited Arrhythmia | BrS | SIFT: deleterious Polyphen: possibly damaging | |
| Reports | Inherited Arrhythmia | BrS | Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. Circ Arrhythm Electrophysiol. 2013 6(1):177-84. doi: 10.1161/CIRCEP.112.974220. 23424222 | ||
| p.Arg811Cys | c.2431C>T | Unknown | SIFT: Polyphen: | ||