No paralogue variants have been mapped to residue 1387 for SCN5A.
| SCN5A | KFGRCINQTEGDL-P-LNYTIVNNKSQCES>L<NLTGE--LYWTKVKVNFDNVGAGYLALLQV | 1415 |
| SCN1A | KFYHCINTTTGDR---FDIEDVNNHTDCLK>L<IERNET-ARWKNVKVNFDNVGFGYLSLLQV | 1428 |
| SCN2A | KFYHCINYTTGEM---FDVSVVNNYSECKA>L<IESNQT-ARWKNVKVNFDNVGLGYLSLLQV | 1418 |
| SCN3A | KFYHCVNMTTGNM---FDISDVNNLSDCQA>L<GK--Q--ARWKNVKVNFDNVGAGYLALLQV | 1413 |
| SCN4A | KFYYCINTTTSER---FDISEVNNKSECES>L<MHTGQ--VRWLNVKVNYDNVGLGYLSLLQV | 1240 |
| SCN7A | RFYECIDPTSGER---FPSSEVMNKSRCES>L<LFNES--MLWENAKMNFDNVGNGFLSLLQV | 1138 |
| SCN8A | KYHYCFNETSEIR---FEIEDVNNKTECEK>L<MEGNNTEIRWKNVKINFDNVGAGYLALLQV | 1409 |
| SCN9A | KFYECINTTDGSR---FPASQVPNRSECFA>L<MNVSQN-VRWKNLKVNFDNVGLGYLSLLQV | 1391 |
| SCN10A | KFWRCINYTDGEF-SLVPLSIVNNKSDCKI>Q<NSTGS--FFWVNVKVNFDNVAMGYLALLQV | 1363 |
| SCN11A | KFGKCINGTDSVI----NYTIITNKSQCES>G<N------FSWINQKVNFDNVGNAYLALLQV | 1253 |
| CACNA1A | KFFHCTDESKEFEKDCRGKYLLYEKNEVK->-<--AR--DREWKKYEFHYDNVLWALLTLFTV | 1456 |
| CACNA1B | KFFYCTDESKELERDCRGQYLDYEKEEVE->-<--AQ--PRQWKKYDFHYDNVLWALLTLFTV | 1362 |
| CACNA1C | KLYTCSDSSKQTEAECKGNYITYKDGEVDH>P<-IIQ--PRSWENSKFDFDNVLAAMMALFTV | 1111 |
| CACNA1D | KFYRCTDEAKSNPEECRGLFILYKDGDVDS>P<-VVR--ERIWQNSDFNFDNVLSAMMALFTV | 1117 |
| CACNA1E | KFFYCTDSSKDTEKECIGNYVDHEKNKME->-<--VK--GREWKRHEFHYDNIIWALLTLFTV | 1368 |
| CACNA1F | KFYTCTDEAKHTPQECKGSFLVYPDGDVSR>P<-LVR--ERLWVNSDFNFDNVLSAMMALFTV | 1082 |
| CACNA1G | KFFVCQGED---------TRNITNKSDCA->-<--EA--SYRWVRHKYNFDNLGQALMSLFVL | 1482 |
| CACNA1H | KFYYCEGPD---------TRNISTKAQCR->-<--AA--HYRWVRRKYNFDNLGQALMSLFVL | 1500 |
| CACNA1I | KFYHCLGVD---------TRNITNRSDCM->-<--AA--NYRWVHHKYNFDNLGQALMSLFVL | 1376 |
| CACNA1S | KFFRCTDLSKMTEEECRGYYYVYKDGDPMQ>I<-ELR--HREWVHSDFHFDNVLSAMMSLFTV | 1010 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L1387F | c.4161G>C | Putative Benign | rs182293857 | SIFT: tolerated Polyphen: benign |