No paralogue variants have been mapped to residue 822 for SCN5A.
SCN5A | GLSRMS-----NLSVLRSFRLLRVFKLAKS>W<PTLNTLIKIIGNSVGALGNLTLVLAIIVFI | 852 |
SCN1A | GLANVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI | 903 |
SCN2A | GLANVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI | 894 |
SCN3A | GLSNVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI | 895 |
SCN4A | GLANVQ-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI | 713 |
SCN7A | CLANVA-----GMALLRLFRMLRIFKLGKY>W<PTFQILMWSLSNSWVALKDLVLLLFTFIFF | 640 |
SCN8A | SLADVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI | 888 |
SCN9A | FLADVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI | 868 |
SCN10A | GVAKKG-----SLSVLRSFRLLRVFKLAKS>W<PTLNTLIKIIGNSVGALGNLTIILAIIVFV | 800 |
SCN11A | MNCVLQKR---SWPFLRSFRVLRVFKLAKS>W<PTLNTLIKIIGNSVGALGSLTVVLVIVIFI | 714 |
CACNA1A | IWAVIKPGTSFGISVLRALRLLRIFKVTKY>W<ASLRNLVVSLLNSMKSIISLLFLLFLFIVV | 627 |
CACNA1B | VWAAIKPGSSFGISVLRALRLLRIFKVTKY>W<SSLRNLVVSLLNSMKSIISLLFLLFLFIVV | 623 |
CACNA1C | ILVETKIMSPLGISVLRCVRLLRIFKITRY>W<NSLSNLVASLLNSVRSIASLLLLLFLFIII | 664 |
CACNA1D | ILVELEIMSPLGISVFRCVRLLRIFKVTRH>W<TSLSNLVASLLNSMKSIASLLLLLFLFIII | 683 |
CACNA1E | VWAIFRPGTSFGISVLRALRLLRIFKITKY>W<ASLRNLVVSLMSSMKSIISLLFLLFLFIVV | 616 |
CACNA1F | TLVEVGAMQPLGISVLRCVRLLRIFKVTRH>W<ASLSNLVASLLNSMKSIASLLLLLFLFIII | 669 |
CACNA1G | VGQQGG-----GLSVLRTFRLMRVLKLVRF>L<PALQRQLVVLMKTMDNVATFCMLLMLFIFI | 878 |
CACNA1H | VGQADG-----GLSVLRTFRLLRVLKLVRF>L<PALRRQLVVLVKTMDNVATFCTLLMLFIFI | 928 |
CACNA1I | VGQADG-----GLSVLRTFRLLRVLKLVRF>M<PALRRQLVVLMKTMDNVATFCMLLMLFIFI | 775 |
CACNA1S | LLVESGAMTPLGISVLRCIRLLRIFKITKY>W<TSLSNLVASLLNSIRSIASLLLLLFLFIVI | 572 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W822C | c.2466G>T | Inherited Arrhythmia | BrS | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | BrS | Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing: Implications for Genetic Testing. J Am Coll Cardiol. 2012 60(15):1410-8. doi: 10.1016/j.jacc.2012.04.037. 22840528 |