Paralogue Annotation for SCN5A residue 1281

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1281
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1281

No paralogue variants have been mapped to residue 1281 for SCN5A.



SCN5ALLKWVAYGF----KKYFTNAWCWLDFLIVD>V<SLVSLVAN-T----LGFAEMGPIKSLRTLR1306
SCN1ALLKWVAYGY----QTYFTNAWCWLDFLIVD>V<SLVSLTAN-A----LGYSELGAIKSLRTLR1319
SCN2ALLKWVAYGF----QVYFTNAWCWLDFLIVD>V<SLVSLTAN-A----LGYSELGAIKSLRTLR1309
SCN3ALLKWVAYGF----QTYFTNAWCWLDFLIVD>V<SLVSLVAN-A----LGYSELGAIKSLRTLR1307
SCN4ALLKWVAYGF----KVYFTNAWCWLDFLIVD>V<SIISLVAN-W----LGYSELGPIKSLRTLR1132
SCN7ALLKWMAYGF----KAYFSNGWYRLDFVVVI>V<FCLSLIGK-T----RE--E---LKPLISMK1030
SCN8ALLKWTAYGF----VKFFTNAWCWLDFLIVA>V<SLVSLIAN-A----LGYSELGAIKSLRTLR1299
SCN9ALLKWIAYGY----KTYFTNAWCWLDFLIVD>V<SLVTLVAN-T----LGYSDLGPIKSLRTLR1282
SCN10ALLKWVAYGF----KKYFTNAWCWLDFLIVN>I<SLISLTAK-I----LEYSEVAPIKALRTLR1253
SCN11AVLKWVAFGF----GKYFTSAWCCLDFIIVI>V<SVTTLI---------N---LMELKSFRTLR1150
CACNA1AVIKMIDLGLVLHQGAYFRDLWNILDFIVVS>G<ALVAFAFTGN----SKGKDINTIKSLRVLR1349
CACNA1BVIKMIDLGLLLHPGAYFRDLWNILDFIVVS>G<ALVAFAFS-G----SKGKDINTIKSLRVLR1255
CACNA1CALKMTAYGAFLHKGSFCRNYFNILDLLVVS>V<SLISF----G----IQSSAINVVKILRVLR1001
CACNA1DLLKMTTFGAFLHKGAFCRNYFNLLDMLVVG>V<SLVSF----G----IQSSAISVVKILRVLR1007
CACNA1EVIKMIDQGLILQDGSYFRDLWNILDFVVVV>G<ALVAFALANA-LGTNKGRDIKTIKSLRVLR1261
CACNA1FLLKMTVFGAFLHRGSFCRSWFNMLDLLVVS>V<SLISF----G----IHSSAISVVKILRVLR972
CACNA1GTVKVVALGWCFGEQAYLRSSWNVLDGLLVL>I<SVIDILVS-MVSD-SGTKILGMLRVLRLLR1384
CACNA1HMVKVVALGLLSGEHAYLQSSWNLLDGLLVL>V<SLVDIVVA-MASA-GGAKILGVLRVLRLLR1402
CACNA1ITLKVVSLGLYFGEQAYLRSSWNVLDGFLVF>V<SIIDIVVS-LASA-GGAKILGVLRVLRLLR1278
CACNA1SVLKMTTYGAFLHKGSFCRNYFNMLDLLVVA>V<SLISM----G----LESSAISVVKILRVLR900
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1281Fc.3841G>T Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Prospective evaluation of the familial prevalence of the brugada syndrome. Am J Cardiol. 2010 106(12):1758-62. 21126620
Inherited ArrhythmiaBrS Dual phenotypic transmission in Brugada syndrome. Arch Cardiovasc Dis. 2013 106(6-7):366-72. doi: 10.1016/j.acvd.2013.04.007. 23810369