| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CACNA1H | A876T | Idiopathic epilepsy, generalised | Medium | 6 | 17696120 |
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 | ALDPYYYFQQGWNIFDSIIVILSLMELGLS>R<MS-----NLSVLRSFRLLRVFKLAKSWPTL | 825 |
| SCN1A | AMDPYYYFQEGWNIFDGFIVTLSLVELGLA>N<VE-----GLSVLRSFRLLRVFKLAKSWPTL | 876 |
| SCN2A | AMDPYYYFQEGWNIFDGFIVSLSLMELGLA>N<VE-----GLSVLRSFRLLRVFKLAKSWPTL | 867 |
| SCN3A | AMDPYYYFQEGWNIFDGIIVSLSLMELGLS>N<VE-----GLSVLRSFRLLRVFKLAKSWPTL | 868 |
| SCN4A | AMDPYEYFQQGWNIFDSIIVTLSLVELGLA>N<VQ-----GLSVLRSFRLLRVFKLAKSWPTL | 686 |
| SCN7A | AMHPYGYFQVGWNIFDSMIVFHGLIELCLA>N<VA-----GMALLRLFRMLRIFKLGKYWPTF | 613 |
| SCN8A | AMDPYYYFQEGWNIFDGFIVSLSLMELSLA>D<VE-----GLSVLRSFRLLRVFKLAKSWPTL | 861 |
| SCN9A | AMDPYEYFQVGWNIFDSLIVTLSLVELFLA>D<VE-----GLSVLRSFRLLRVFKLAKSWPTL | 841 |
| SCN10A | AFDPYYYFQKKWNIFDCIIVTVSLLELGVA>K<KG-----SLSVLRSFRLLRVFKLAKSWPTL | 773 |
| SCN11A | ALDPYHYFRRGWNIFDSIVALLSFADVMNC>V<LQKR---SWPFLRSFRVLRVFKLAKSWPTL | 687 |
| CACNA1A | GLGTRPYFHSSFNCFDCGVIIGSIFEVIWA>V<IKPGTSFGISVLRALRLLRIFKVTKYWASL | 600 |
| CACNA1B | GLGPRSYFRSSFNCFDFGVIVGSVFEVVWA>A<IKPGSSFGISVLRALRLLRIFKVTKYWSSL | 596 |
| CACNA1C | SLGLQAYFVSLFNRFDCFVVCGGILETILV>E<TKIMSPLGISVLRCVRLLRIFKITRYWNSL | 637 |
| CACNA1D | SLGLQAYFVSLFNRFDCFVVCGGITETILV>E<LEIMSPLGISVFRCVRLLRIFKVTRHWTSL | 656 |
| CACNA1E | GMGPRLYFHSSFNCFDFGVTVGSIFEVVWA>I<FRPGTSFGISVLRALRLLRIFKITKYWASL | 589 |
| CACNA1F | GLGPSAYVSSFFNRFDCFVVCGGILETTLV>E<VGAMQPLGISVLRCVRLLRIFKVTRHWASL | 642 |
| CACNA1G | VYGPFGYIKNPYNIFDGVIVVISVWEIVGQ>Q<GG-----GLSVLRTFRLMRVLKLVRFLPAL | 851 |
| CACNA1H | ACGPLGYIRNPYNIFDGIIVVISVWEIVGQ>A<DG-----GLSVLRTFRLLRVLKLVRFLPAL | 901 |
| CACNA1I | AFGLFDYLRNPYNIFDSIIVIISIWEIVGQ>A<DG-----GLSVLRTFRLLRVLKLVRFMPAL | 748 |
| CACNA1S | GLGLRQYFMSIFNRFDCFVVCSGILEILLV>E<SGAMTPLGISVLRCIRLLRIFKITKYWTSL | 545 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R800L | c.2399G>T | Inherited Arrhythmia | LQTS | SIFT: deleterious Polyphen: benign | |
| Reports | Inherited Arrhythmia | LQTS | Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome. Am J Physiol Heart Circ Physiol. 2013 304(7):H994-H1001. doi: 10.1152/ajpheart.00705.201 23376825 | ||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||
| p.R800H | c.2399G>A | Putative Benign | SIFT: tolerated Polyphen: benign | ||
| p.R800C | c.2398C>T | Putative Benign | SIFT: Polyphen: | ||