No paralogue variants have been mapped to residue 1780 for SCN5A.
| SCN5A | LFFTTYIIISFLIVVNMYIAIILENFSVAT>E<ESTEPLSEDDFDMFYEIWEKFDPEATQFIE | 1810 |
| SCN1A | FFFVSYIIISFLVVVNMYIAVILENFSVAT>E<ESAEPLSEDDFEMFYEVWEKFDPDATQFME | 1824 |
| SCN2A | FFFVSYIIISFLVVVNMYIAVILENFSVAT>E<ESAEPLSEDDFEMFYEVWEKFDPDATQFIE | 1814 |
| SCN3A | FFFVSYIIISFLVVVNMYIAVILENFSVAT>E<ESAEPLSEDDFEMFYEVWEKFDPDATQFIE | 1809 |
| SCN4A | CFFCSYIIISFLIVVNMYIAIILENFNVAT>E<ESSEPLGEDDFEMFYETWEKFDPDATQFIA | 1636 |
| SCN7A | FYFVSYILISWLIIVNMYIVVVMEFLNIAS>K<KKNKTLSEDDFRKFFQVWKRFDPDRTQYID | 1534 |
| SCN8A | FFFVSYIIISFLIVVNMYIAIILENFSVAT>E<ESADPLSEDDFETFYEIWEKFDPDATQFIE | 1804 |
| SCN9A | FYFVSYIIISFLVVVNMYIAVILENFSVAT>E<ESTEPLSEDDFEMFYEVWEKFDPDATQFIE | 1787 |
| SCN10A | IFFTTYIIISFLIMVNMYIAVILENFNVAT>E<ESTEPLSEDDFDMFYETWEKFDPEATQFIT | 1760 |
| SCN11A | SYFVSYIIISFLIVVNMYIAVILENFNTAT>E<ESEDPLGEDDFDIFYEVWEKFDPEATQFIK | 1642 |
| CACNA1A | FYFVSFIFLCSFLMLNLFVAVIMDNFEYLT>R<DSSI-LGPHHLDEYVRVWAEYDPAACGRIH | 1848 |
| CACNA1B | FYFVSFIFLCSFLMLNLFVAVIMDNFEYLT>R<DSSI-LGPHHLDEFIRVWAEYDPAACGRIS | 1746 |
| CACNA1C | FYFISFYMLCAFLIINLFVAVIMDNFDYLT>R<DWSI-LGPHHLDEFKRIWAEYDPEAKGRIK | 1513 |
| CACNA1D | VYFISFYMLCAFLIINLFVAVIMDNFDYLT>R<DWSI-LGPHHLDEFKRIWSEYDPEAKGRIK | 1521 |
| CACNA1E | VYFVSFIFFCSFLMLNLFVAVIMDNFEYLT>R<DSSI-LGPHHLDEFVRVWAEYDRAACGRIH | 1760 |
| CACNA1F | AYFISFFMLCAFLIINLFVAVIMDNFDYLT>R<DWSI-LGPHHLDEFKRIWSEYDPGAKGRIK | 1478 |
| CACNA1G | IYFVSFVLTAQFVLVNVVIAVLMKHLEESN>K<EAKE---EAELEAELELEMKT-LSPQPHSP | 1885 |
| CACNA1H | VYFVTFVLVAQFVLVNVVVAVLMKHLEESN>K<EARE---DAELDAEIELEMAQGPGSARRVD | 1895 |
| CACNA1I | LYFVSFVLTAQFVLINVVVAVLMKHLDDSN>K<EAQE---DAEMDAELELEMAHGLGPGPRLP | 1765 |
| CACNA1S | YYFISFYMLCAFLVINLFVAVIMDNFDYLT>R<DWSI-LGPHHLDEFKAIWAEYDPEAKGRIK | 1418 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E1780G | c.5339A>G | Inherited Arrhythmia | SIFT: Polyphen: | ||
| Reports | Other Disease Phenotype | Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome. Gastroenterology. 2014 146(7):1659-68. doi: 10.1053/j.gastro.2014.02.054. 24613995 | |||
| Inherited Arrhythmia | BrS | Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Hum Mol Genet. 2015 24(10):2757-63. doi: 10.1093/hmg/ddv036. 25650408 | |||