No paralogue variants have been mapped to residue 1281 for SCN5A.
SCN5A | LLKWVAYGF----KKYFTNAWCWLDFLIVD>V<SLVSLVAN-T----LGFAEMGPIKSLRTLR | 1306 |
SCN1A | LLKWVAYGY----QTYFTNAWCWLDFLIVD>V<SLVSLTAN-A----LGYSELGAIKSLRTLR | 1319 |
SCN2A | LLKWVAYGF----QVYFTNAWCWLDFLIVD>V<SLVSLTAN-A----LGYSELGAIKSLRTLR | 1309 |
SCN3A | LLKWVAYGF----QTYFTNAWCWLDFLIVD>V<SLVSLVAN-A----LGYSELGAIKSLRTLR | 1307 |
SCN4A | LLKWVAYGF----KVYFTNAWCWLDFLIVD>V<SIISLVAN-W----LGYSELGPIKSLRTLR | 1132 |
SCN7A | LLKWMAYGF----KAYFSNGWYRLDFVVVI>V<FCLSLIGK-T----RE--E---LKPLISMK | 1030 |
SCN8A | LLKWTAYGF----VKFFTNAWCWLDFLIVA>V<SLVSLIAN-A----LGYSELGAIKSLRTLR | 1299 |
SCN9A | LLKWIAYGY----KTYFTNAWCWLDFLIVD>V<SLVTLVAN-T----LGYSDLGPIKSLRTLR | 1282 |
SCN10A | LLKWVAYGF----KKYFTNAWCWLDFLIVN>I<SLISLTAK-I----LEYSEVAPIKALRTLR | 1253 |
SCN11A | VLKWVAFGF----GKYFTSAWCCLDFIIVI>V<SVTTLI---------N---LMELKSFRTLR | 1150 |
CACNA1A | VIKMIDLGLVLHQGAYFRDLWNILDFIVVS>G<ALVAFAFTGN----SKGKDINTIKSLRVLR | 1349 |
CACNA1B | VIKMIDLGLLLHPGAYFRDLWNILDFIVVS>G<ALVAFAFS-G----SKGKDINTIKSLRVLR | 1255 |
CACNA1C | ALKMTAYGAFLHKGSFCRNYFNILDLLVVS>V<SLISF----G----IQSSAINVVKILRVLR | 1001 |
CACNA1D | LLKMTTFGAFLHKGAFCRNYFNLLDMLVVG>V<SLVSF----G----IQSSAISVVKILRVLR | 1007 |
CACNA1E | VIKMIDQGLILQDGSYFRDLWNILDFVVVV>G<ALVAFALANA-LGTNKGRDIKTIKSLRVLR | 1261 |
CACNA1F | LLKMTVFGAFLHRGSFCRSWFNMLDLLVVS>V<SLISF----G----IHSSAISVVKILRVLR | 972 |
CACNA1G | TVKVVALGWCFGEQAYLRSSWNVLDGLLVL>I<SVIDILVS-MVSD-SGTKILGMLRVLRLLR | 1384 |
CACNA1H | MVKVVALGLLSGEHAYLQSSWNLLDGLLVL>V<SLVDIVVA-MASA-GGAKILGVLRVLRLLR | 1402 |
CACNA1I | TLKVVSLGLYFGEQAYLRSSWNVLDGFLVF>V<SIIDIVVS-LASA-GGAKILGVLRVLRLLR | 1278 |
CACNA1S | VLKMTTYGAFLHKGSFCRNYFNMLDLLVVA>V<SLISM----G----LESSAISVVKILRVLR | 900 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1281F | c.3841G>T | Inherited Arrhythmia | BrS | rs199473602 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | Prospective evaluation of the familial prevalence of the brugada syndrome. Am J Cardiol. 2010 106(12):1758-62. 21126620 | ||
Inherited Arrhythmia | BrS | Dual phenotypic transmission in Brugada syndrome. Arch Cardiovasc Dis. 2013 106(6-7):366-72. doi: 10.1016/j.acvd.2013.04.007. 23810369 |