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 |