Paralogue Annotation for SCN5A residue 822

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 822
Reference Amino Acid: W - Tryptophan
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 822

No paralogue variants have been mapped to residue 822 for SCN5A.



SCN5AGLSRMS-----NLSVLRSFRLLRVFKLAKS>W<PTLNTLIKIIGNSVGALGNLTLVLAIIVFI852
SCN1AGLANVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI903
SCN2AGLANVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI894
SCN3AGLSNVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI895
SCN4AGLANVQ-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI713
SCN7ACLANVA-----GMALLRLFRMLRIFKLGKY>W<PTFQILMWSLSNSWVALKDLVLLLFTFIFF640
SCN8ASLADVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI888
SCN9AFLADVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI868
SCN10AGVAKKG-----SLSVLRSFRLLRVFKLAKS>W<PTLNTLIKIIGNSVGALGNLTIILAIIVFV800
SCN11AMNCVLQKR---SWPFLRSFRVLRVFKLAKS>W<PTLNTLIKIIGNSVGALGSLTVVLVIVIFI714
CACNA1AIWAVIKPGTSFGISVLRALRLLRIFKVTKY>W<ASLRNLVVSLLNSMKSIISLLFLLFLFIVV627
CACNA1BVWAAIKPGSSFGISVLRALRLLRIFKVTKY>W<SSLRNLVVSLLNSMKSIISLLFLLFLFIVV623
CACNA1CILVETKIMSPLGISVLRCVRLLRIFKITRY>W<NSLSNLVASLLNSVRSIASLLLLLFLFIII664
CACNA1DILVELEIMSPLGISVFRCVRLLRIFKVTRH>W<TSLSNLVASLLNSMKSIASLLLLLFLFIII683
CACNA1EVWAIFRPGTSFGISVLRALRLLRIFKITKY>W<ASLRNLVVSLMSSMKSIISLLFLLFLFIVV616
CACNA1FTLVEVGAMQPLGISVLRCVRLLRIFKVTRH>W<ASLSNLVASLLNSMKSIASLLLLLFLFIII669
CACNA1GVGQQGG-----GLSVLRTFRLMRVLKLVRF>L<PALQRQLVVLMKTMDNVATFCMLLMLFIFI878
CACNA1HVGQADG-----GLSVLRTFRLLRVLKLVRF>L<PALRRQLVVLVKTMDNVATFCTLLMLFIFI928
CACNA1IVGQADG-----GLSVLRTFRLLRVLKLVRF>M<PALRRQLVVLMKTMDNVATFCMLLMLFIFI775
CACNA1SLLVESGAMTPLGISVLRCIRLLRIFKITKY>W<TSLSNLVASLLNSIRSIASLLLLLFLFIVI572
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W822Cc.2466G>T Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS 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