No paralogue variants have been mapped to residue 1364 for SCN5A.
SCN5A | IMNVLLVCLIFWLIFSIMGVNLFAGKFGRC>I<NQTEGDL-P-LNYTIVNNKSQCESLNLTGE | 1392 |
SCN1A | IMNVLLVCLIFWLIFSIMGVNLFAGKFYHC>I<NTTTGDR---FDIEDVNNHTDCLKLIERNE | 1404 |
SCN2A | IMNVLLVCLIFWLIFSIMGVNLFAGKFYHC>I<NYTTGEM---FDVSVVNNYSECKALIESNQ | 1394 |
SCN3A | IMNVLLVCLIFWLIFSIMGVNLFAGKFYHC>V<NMTTGNM---FDISDVNNLSDCQALGK--Q | 1390 |
SCN4A | IMNVLLVCLIFWLIFSIMGVNLFAGKFYYC>I<NTTTSER---FDISEVNNKSECESLMHTGQ | 1217 |
SCN7A | TLNVFLVCLMIWLIFSIMGVDLFAGRFYEC>I<DPTSGER---FPSSEVMNKSRCESLLFNES | 1115 |
SCN8A | IMNVLLVCLIFWLIFSIMGVNLFAGKYHYC>F<NETSEIR---FEIEDVNNKTECEKLMEGNN | 1384 |
SCN9A | IMNVLLVCLIFWLIFSIMGVNLFAGKFYEC>I<NTTDGSR---FPASQVPNRSECFALMNVSQ | 1367 |
SCN10A | IMNVLLVCLIFWLIFSIMGVNLFAGKFWRC>I<NYTDGEF-SLVPLSIVNNKSDCKIQNSTGS | 1340 |
SCN11A | ILNVLLVCLIFWLVFCILGVYFFSGKFGKC>I<NGTDSVI----NYTIITNKSQCESGN---- | 1230 |
CACNA1A | VFNILIVYMLFMFIFAVVAVQLFKGKFFHC>T<DESKEFEKDCRGKYLLYEKNEVK----AR- | 1432 |
CACNA1B | VLNILIVYMLFMFIFAVIAVQLFKGKFFYC>T<DESKELERDCRGQYLDYEKEEVE----AQ- | 1338 |
CACNA1C | IGNIVIVTTLLQFMFACIGVQLFKGKLYTC>S<DSSKQTEAECKGNYITYKDGEVDHP-IIQ- | 1087 |
CACNA1D | IGNIMIVTTLLQFMFACIGVQLFKGKFYRC>T<DEAKSNPEECRGLFILYKDGDVDSP-VVR- | 1093 |
CACNA1E | VFNILIVYKLFMFIFAVIAVQLFKGKFFYC>T<DSSKDTEKECIGNYVDHEKNKME----VK- | 1344 |
CACNA1F | IGNIMIVTTLLQFMFACIGVQLFKGKFYTC>T<DEAKHTPQECKGSFLVYPDGDVSRP-LVR- | 1058 |
CACNA1G | IGNIVVICCAFFIIFGILGVQLFKGKFFVC>Q<GED---------TRNITNKSDCA----EA- | 1458 |
CACNA1H | IGNIVLICCAFFIIFGILGVQLFKGKFYYC>E<GPD---------TRNISTKAQCR----AA- | 1476 |
CACNA1I | IGNIVLICCAFFIIFGILGVQLFKGKFYHC>L<GVD---------TRNITNRSDCM----AA- | 1352 |
CACNA1S | IGNIVLVTTLLQFMFACIGVQLFKGKFFRC>T<DLSKMTEEECRGYYYVYKDGDPMQI-ELR- | 986 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1364V | c.4090A>G | Putative Benign | rs369411869 | SIFT: tolerated Polyphen: possibly damaging |