No paralogue variants have been mapped to residue 1375 for SCN5A.
| SCN5A | IFSIMGVNLFAGKFGRCINQTEGDL-P-LN>Y<TIVNNKSQCESLNLTGE--LYWTKVKVNFD | 1403 |
| SCN1A | IFSIMGVNLFAGKFYHCINTTTGDR---FD>I<EDVNNHTDCLKLIERNET-ARWKNVKVNFD | 1416 |
| SCN2A | IFSIMGVNLFAGKFYHCINYTTGEM---FD>V<SVVNNYSECKALIESNQT-ARWKNVKVNFD | 1406 |
| SCN3A | IFSIMGVNLFAGKFYHCVNMTTGNM---FD>I<SDVNNLSDCQALGK--Q--ARWKNVKVNFD | 1401 |
| SCN4A | IFSIMGVNLFAGKFYYCINTTTSER---FD>I<SEVNNKSECESLMHTGQ--VRWLNVKVNYD | 1228 |
| SCN7A | IFSIMGVDLFAGRFYECIDPTSGER---FP>S<SEVMNKSRCESLLFNES--MLWENAKMNFD | 1126 |
| SCN8A | IFSIMGVNLFAGKYHYCFNETSEIR---FE>I<EDVNNKTECEKLMEGNNTEIRWKNVKINFD | 1397 |
| SCN9A | IFSIMGVNLFAGKFYECINTTDGSR---FP>A<SQVPNRSECFALMNVSQN-VRWKNLKVNFD | 1379 |
| SCN10A | IFSIMGVNLFAGKFWRCINYTDGEF-SLVP>L<SIVNNKSDCKIQNSTGS--FFWVNVKVNFD | 1351 |
| SCN11A | VFCILGVYFFSGKFGKCINGTDSVI----N>Y<TIITNKSQCESGN------FSWINQKVNFD | 1241 |
| CACNA1A | IFAVVAVQLFKGKFFHCTDESKEFEKDCRG>K<YLLYEKNEVK----AR--DREWKKYEFHYD | 1444 |
| CACNA1B | IFAVIAVQLFKGKFFYCTDESKELERDCRG>Q<YLDYEKEEVE----AQ--PRQWKKYDFHYD | 1350 |
| CACNA1C | MFACIGVQLFKGKLYTCSDSSKQTEAECKG>N<YITYKDGEVDHP-IIQ--PRSWENSKFDFD | 1099 |
| CACNA1D | MFACIGVQLFKGKFYRCTDEAKSNPEECRG>L<FILYKDGDVDSP-VVR--ERIWQNSDFNFD | 1105 |
| CACNA1E | IFAVIAVQLFKGKFFYCTDSSKDTEKECIG>N<YVDHEKNKME----VK--GREWKRHEFHYD | 1356 |
| CACNA1F | MFACIGVQLFKGKFYTCTDEAKHTPQECKG>S<FLVYPDGDVSRP-LVR--ERLWVNSDFNFD | 1070 |
| CACNA1G | IFGILGVQLFKGKFFVCQGED--------->T<RNITNKSDCA----EA--SYRWVRHKYNFD | 1470 |
| CACNA1H | IFGILGVQLFKGKFYYCEGPD--------->T<RNISTKAQCR----AA--HYRWVRRKYNFD | 1488 |
| CACNA1I | IFGILGVQLFKGKFYHCLGVD--------->T<RNITNRSDCM----AA--NYRWVHHKYNFD | 1364 |
| CACNA1S | MFACIGVQLFKGKFFRCTDLSKMTEEECRG>Y<YYVYKDGDPMQI-ELR--HREWVHSDFHFD | 998 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y1375H | c.4123T>C | Putative Benign | SIFT: Polyphen: |