No paralogue variants have been mapped to residue 1366 for SCN5A.
| SCN5A | NVLLVCLIFWLIFSIMGVNLFAGKFGRCIN>Q<TEGDL-P-LNYTIVNNKSQCESLNLTGE-- | 1392 |
| SCN1A | NVLLVCLIFWLIFSIMGVNLFAGKFYHCIN>T<TTGDR---FDIEDVNNHTDCLKLIERNET- | 1405 |
| SCN2A | NVLLVCLIFWLIFSIMGVNLFAGKFYHCIN>Y<TTGEM---FDVSVVNNYSECKALIESNQT- | 1395 |
| SCN3A | NVLLVCLIFWLIFSIMGVNLFAGKFYHCVN>M<TTGNM---FDISDVNNLSDCQALGK--Q-- | 1390 |
| SCN4A | NVLLVCLIFWLIFSIMGVNLFAGKFYYCIN>T<TTSER---FDISEVNNKSECESLMHTGQ-- | 1217 |
| SCN7A | NVFLVCLMIWLIFSIMGVDLFAGRFYECID>P<TSGER---FPSSEVMNKSRCESLLFNES-- | 1115 |
| SCN8A | NVLLVCLIFWLIFSIMGVNLFAGKYHYCFN>E<TSEIR---FEIEDVNNKTECEKLMEGNNTE | 1386 |
| SCN9A | NVLLVCLIFWLIFSIMGVNLFAGKFYECIN>T<TDGSR---FPASQVPNRSECFALMNVSQN- | 1368 |
| SCN10A | NVLLVCLIFWLIFSIMGVNLFAGKFWRCIN>Y<TDGEF-SLVPLSIVNNKSDCKIQNSTGS-- | 1340 |
| SCN11A | NVLLVCLIFWLVFCILGVYFFSGKFGKCIN>G<TDSVI----NYTIITNKSQCESGN------ | 1230 |
| CACNA1A | NILIVYMLFMFIFAVVAVQLFKGKFFHCTD>E<SKEFEKDCRGKYLLYEKNEVK----AR--D | 1433 |
| CACNA1B | NILIVYMLFMFIFAVIAVQLFKGKFFYCTD>E<SKELERDCRGQYLDYEKEEVE----AQ--P | 1339 |
| CACNA1C | NIVIVTTLLQFMFACIGVQLFKGKLYTCSD>S<SKQTEAECKGNYITYKDGEVDHP-IIQ--P | 1088 |
| CACNA1D | NIMIVTTLLQFMFACIGVQLFKGKFYRCTD>E<AKSNPEECRGLFILYKDGDVDSP-VVR--E | 1094 |
| CACNA1E | NILIVYKLFMFIFAVIAVQLFKGKFFYCTD>S<SKDTEKECIGNYVDHEKNKME----VK--G | 1345 |
| CACNA1F | NIMIVTTLLQFMFACIGVQLFKGKFYTCTD>E<AKHTPQECKGSFLVYPDGDVSRP-LVR--E | 1059 |
| CACNA1G | NIVVICCAFFIIFGILGVQLFKGKFFVCQG>E<D---------TRNITNKSDCA----EA--S | 1459 |
| CACNA1H | NIVLICCAFFIIFGILGVQLFKGKFYYCEG>P<D---------TRNISTKAQCR----AA--H | 1477 |
| CACNA1I | NIVLICCAFFIIFGILGVQLFKGKFYHCLG>V<D---------TRNITNRSDCM----AA--N | 1353 |
| CACNA1S | NIVLVTTLLQFMFACIGVQLFKGKFFRCTD>L<SKMTEEECRGYYYVYKDGDPMQI-ELR--H | 987 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q1366H | c.4098G>T | Putative Benign | rs202197761 | SIFT: tolerated Polyphen: benign | |
| p.Q1366R | c.4097A>G | Putative Benign | SIFT: Polyphen: |