Paralogue Annotation for SCN5A residue 728

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 728
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 728

No paralogue variants have been mapped to residue 728 for SCN5A.



SCN5AECCPLWMSIKQGVKLVVMDPFTDLTITMCI>V<LNTLFMALEHYNMTSEFEEMLQVGNLVFTG758
SCN1ADCSPYWLKVKHVVNLVVMDPFVDLAITICI>V<LNTLFMAMEHYPMTDHFNNVLTVGNLVFTG809
SCN2ADCCKPWLKVKHLVNLVVMDPFVDLAITICI>V<LNTLFMAMEHYPMTEQFSSVLSVGNLVFTG800
SCN3ADCCDAWLKVKHLVNLIVMDPFVDLAITICI>V<LNTLFMAMEHYPMTEQFSSVLTVGNLVFTG801
SCN4ANCCAPWLKFKNIIHLIVMDPFVDLGITICI>V<LNTLFMAMEHYPMTEHFDNVLTVGNLVFTG619
SCN7ANCSPCWLKLKEFVHRIIMAPFTDLFLIICI>I<LNVCFLTLEHYPMSKQTNTLLNIGNLVFIG546
SCN8AECHPYWIKLKEIVNLIVMDPFVDLAITICI>V<LNTLFMAMEHHPMTPQFEHVLAVGNLVFTG794
SCN9ANCSPYWIKFKKCIYFIVMDPFVDLAITICI>V<LNTLFMAMEHHPMTEEFKNVLAIGNLVFTG774
SCN10ADCCPMWVKLKTILFGLVTDPFAELTITLCI>V<VNTIFMAMEHHGMSPTFEAMLQIGNIVFTI706
SCN11ANCCPQWLCVKKVLRTVMTDPFTELAITICI>I<INTVFLAMEHHKMEASFEKMLNIGNLVFTS618
CACNA1AFFHKKERRMRFYIRRMVKTQAFYWTVLSLV>A<LNTLCVAIVHYNQPEWLSDFLYYAEFIFLG528
CACNA1BYFRRKEKMFRFFIRRMVKAQSFYWVVLCVV>A<LNTLCVAMVHYNQPRRLTTTLYFAEFVFLG524
CACNA1CYWRRWNRFCRRKCRAAVKSNVFYWLVIFLV>F<LNTLTIASEHYNQPNWLTEVQDTANKALLA565
CACNA1DRWRRWNRFNRRRCRAAVKSVTFYWLVIVLV>F<LNTLTISSEHYNQPDWLTQIQDIANKVLLA584
CACNA1EYFRHKERLLRISIRHMVKSQVFYWIVLSLV>A<LNTACVAIVHHNQPQWLTHLLYYAEFLFLG517
CACNA1FRLRRANRVLRARCRRAVKSNACYWAVLLLV>F<LNTLTIASEHHGQPVWLTQIQEYANKVLLC570
CACNA1GSVLAFWRLICDTFRKIVDSKYFGRGIMIAI>L<VNTLSMGIEYHEQPEELTNALEISNIVFTS784
CACNA1HWMGRLWVTFSGKLRRIVDSKYFSRGIMMAI>L<VNTLSMGVEYHEQPEELTNALEISNIVFTS834
CACNA1ILCGDVWRETRAKLRGIVDSKYFNRGIMMAI>L<VNTVSMGIEHHEQPEELTNILEICNVVFTS681
CACNA1SHWRQWNRIFRWKCHDIVKSKVFYWLVILIV>A<LNTLSIASEHHNQPLWLTRLQDIANRVLLS473
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V728Ic.2182G>A Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaBrS A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome. Clin Genet. 2013 83(6):530-8. doi: 10.1111/cge.12017. 22984773