No paralogue variants have been mapped to residue 1362 for SCN5A.
SCN5A | PSIMNVLLVCLIFWLIFSIMGVNLFAGKFG>R<CINQTEGDL-P-LNYTIVNNKSQCESLNLT | 1390 |
SCN1A | PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY>H<CINTTTGDR---FDIEDVNNHTDCLKLIER | 1402 |
SCN2A | PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY>H<CINYTTGEM---FDVSVVNNYSECKALIES | 1392 |
SCN3A | PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY>H<CVNMTTGNM---FDISDVNNLSDCQALGK- | 1389 |
SCN4A | PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY>Y<CINTTTSER---FDISEVNNKSECESLMHT | 1215 |
SCN7A | LPTLNVFLVCLMIWLIFSIMGVDLFAGRFY>E<CIDPTSGER---FPSSEVMNKSRCESLLFN | 1113 |
SCN8A | PSIMNVLLVCLIFWLIFSIMGVNLFAGKYH>Y<CFNETSEIR---FEIEDVNNKTECEKLMEG | 1382 |
SCN9A | PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY>E<CINTTDGSR---FPASQVPNRSECFALMNV | 1365 |
SCN10A | PSIMNVLLVCLIFWLIFSIMGVNLFAGKFW>R<CINYTDGEF-SLVPLSIVNNKSDCKIQNST | 1338 |
SCN11A | PAILNVLLVCLIFWLVFCILGVYFFSGKFG>K<CINGTDSVI----NYTIITNKSQCESGN-- | 1230 |
CACNA1A | KNVFNILIVYMLFMFIFAVVAVQLFKGKFF>H<CTDESKEFEKDCRGKYLLYEKNEVK----A | 1431 |
CACNA1B | KNVLNILIVYMLFMFIFAVIAVQLFKGKFF>Y<CTDESKELERDCRGQYLDYEKEEVE----A | 1337 |
CACNA1C | RTIGNIVIVTTLLQFMFACIGVQLFKGKLY>T<CSDSSKQTEAECKGNYITYKDGEVDHP-II | 1086 |
CACNA1D | RTIGNIMIVTTLLQFMFACIGVQLFKGKFY>R<CTDEAKSNPEECRGLFILYKDGDVDSP-VV | 1092 |
CACNA1E | KNVFNILIVYKLFMFIFAVIAVQLFKGKFF>Y<CTDSSKDTEKECIGNYVDHEKNKME----V | 1343 |
CACNA1F | RTIGNIMIVTTLLQFMFACIGVQLFKGKFY>T<CTDEAKHTPQECKGSFLVYPDGDVSRP-LV | 1057 |
CACNA1G | KPIGNIVVICCAFFIIFGILGVQLFKGKFF>V<CQGED---------TRNITNKSDCA----E | 1457 |
CACNA1H | RPIGNIVLICCAFFIIFGILGVQLFKGKFY>Y<CEGPD---------TRNISTKAQCR----A | 1475 |
CACNA1I | KPIGNIVLICCAFFIIFGILGVQLFKGKFY>H<CLGVD---------TRNITNRSDCM----A | 1351 |
CACNA1S | STIGNIVLVTTLLQFMFACIGVQLFKGKFF>R<CTDLSKMTEEECRGYYYVYKDGDPMQI-EL | 985 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1362S | c.4086G>T | Putative Benign | SIFT: Polyphen: |