Paralogue Annotation for SCN5A residue 817

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 817
Reference Amino Acid: K - Lysine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 817

No paralogue variants have been mapped to residue 817 for SCN5A.



SCN5ASLMELGLSRMS-----NLSVLRSFRLLRVF>K<LAKSWPTLNTLIKIIGNSVGALGNLTLVLA847
SCN1ASLVELGLANVE-----GLSVLRSFRLLRVF>K<LAKSWPTLNMLIKIIGNSVGALGNLTLVLA898
SCN2ASLMELGLANVE-----GLSVLRSFRLLRVF>K<LAKSWPTLNMLIKIIGNSVGALGNLTLVLA889
SCN3ASLMELGLSNVE-----GLSVLRSFRLLRVF>K<LAKSWPTLNMLIKIIGNSVGALGNLTLVLA890
SCN4ASLVELGLANVQ-----GLSVLRSFRLLRVF>K<LAKSWPTLNMLIKIIGNSVGALGNLTLVLA708
SCN7AGLIELCLANVA-----GMALLRLFRMLRIF>K<LGKYWPTFQILMWSLSNSWVALKDLVLLLF635
SCN8ASLMELSLADVE-----GLSVLRSFRLLRVF>K<LAKSWPTLNMLIKIIGNSVGALGNLTLVLA883
SCN9ASLVELFLADVE-----GLSVLRSFRLLRVF>K<LAKSWPTLNMLIKIIGNSVGALGNLTLVLA863
SCN10ASLLELGVAKKG-----SLSVLRSFRLLRVF>K<LAKSWPTLNTLIKIIGNSVGALGNLTIILA795
SCN11ASFADVMNCVLQKR---SWPFLRSFRVLRVF>K<LAKSWPTLNTLIKIIGNSVGALGSLTVVLV709
CACNA1ASIFEVIWAVIKPGTSFGISVLRALRLLRIF>K<VTKYWASLRNLVVSLLNSMKSIISLLFLLF622
CACNA1BSVFEVVWAAIKPGSSFGISVLRALRLLRIF>K<VTKYWSSLRNLVVSLLNSMKSIISLLFLLF618
CACNA1CGILETILVETKIMSPLGISVLRCVRLLRIF>K<ITRYWNSLSNLVASLLNSVRSIASLLLLLF659
CACNA1DGITETILVELEIMSPLGISVFRCVRLLRIF>K<VTRHWTSLSNLVASLLNSMKSIASLLLLLF678
CACNA1ESIFEVVWAIFRPGTSFGISVLRALRLLRIF>K<ITKYWASLRNLVVSLMSSMKSIISLLFLLF611
CACNA1FGILETTLVEVGAMQPLGISVLRCVRLLRIF>K<VTRHWASLSNLVASLLNSMKSIASLLLLLF664
CACNA1GSVWEIVGQQGG-----GLSVLRTFRLMRVL>K<LVRFLPALQRQLVVLMKTMDNVATFCMLLM873
CACNA1HSVWEIVGQADG-----GLSVLRTFRLLRVL>K<LVRFLPALRRQLVVLVKTMDNVATFCTLLM923
CACNA1ISIWEIVGQADG-----GLSVLRTFRLLRVL>K<LVRFMPALRRQLVVLMKTMDNVATFCMLLM770
CACNA1SGILEILLVESGAMTPLGISVLRCIRLLRIF>K<ITKYWTSLSNLVASLLNSIRSIASLLLLLF567
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K817Ec.2449A>G Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel. Heart Rhythm. 2016 13(5):1113-20. doi: 10.1016/j.hrthm.2016.01.008. 26776555