No paralogue variants have been mapped to residue 1377 for SCN5A.
SCN5A | SIMGVNLFAGKFGRCINQTEGDL-P-LNYT>I<VNNKSQCESLNLTGE--LYWTKVKVNFDNV | 1405 |
SCN1A | SIMGVNLFAGKFYHCINTTTGDR---FDIE>D<VNNHTDCLKLIERNET-ARWKNVKVNFDNV | 1418 |
SCN2A | SIMGVNLFAGKFYHCINYTTGEM---FDVS>V<VNNYSECKALIESNQT-ARWKNVKVNFDNV | 1408 |
SCN3A | SIMGVNLFAGKFYHCVNMTTGNM---FDIS>D<VNNLSDCQALGK--Q--ARWKNVKVNFDNV | 1403 |
SCN4A | SIMGVNLFAGKFYYCINTTTSER---FDIS>E<VNNKSECESLMHTGQ--VRWLNVKVNYDNV | 1230 |
SCN7A | SIMGVDLFAGRFYECIDPTSGER---FPSS>E<VMNKSRCESLLFNES--MLWENAKMNFDNV | 1128 |
SCN8A | SIMGVNLFAGKYHYCFNETSEIR---FEIE>D<VNNKTECEKLMEGNNTEIRWKNVKINFDNV | 1399 |
SCN9A | SIMGVNLFAGKFYECINTTDGSR---FPAS>Q<VPNRSECFALMNVSQN-VRWKNLKVNFDNV | 1381 |
SCN10A | SIMGVNLFAGKFWRCINYTDGEF-SLVPLS>I<VNNKSDCKIQNSTGS--FFWVNVKVNFDNV | 1353 |
SCN11A | CILGVYFFSGKFGKCINGTDSVI----NYT>I<ITNKSQCESGN------FSWINQKVNFDNV | 1243 |
CACNA1A | AVVAVQLFKGKFFHCTDESKEFEKDCRGKY>L<LYEKNEVK----AR--DREWKKYEFHYDNV | 1446 |
CACNA1B | AVIAVQLFKGKFFYCTDESKELERDCRGQY>L<DYEKEEVE----AQ--PRQWKKYDFHYDNV | 1352 |
CACNA1C | ACIGVQLFKGKLYTCSDSSKQTEAECKGNY>I<TYKDGEVDHP-IIQ--PRSWENSKFDFDNV | 1101 |
CACNA1D | ACIGVQLFKGKFYRCTDEAKSNPEECRGLF>I<LYKDGDVDSP-VVR--ERIWQNSDFNFDNV | 1107 |
CACNA1E | AVIAVQLFKGKFFYCTDSSKDTEKECIGNY>V<DHEKNKME----VK--GREWKRHEFHYDNI | 1358 |
CACNA1F | ACIGVQLFKGKFYTCTDEAKHTPQECKGSF>L<VYPDGDVSRP-LVR--ERLWVNSDFNFDNV | 1072 |
CACNA1G | GILGVQLFKGKFFVCQGED---------TR>N<ITNKSDCA----EA--SYRWVRHKYNFDNL | 1472 |
CACNA1H | GILGVQLFKGKFYYCEGPD---------TR>N<ISTKAQCR----AA--HYRWVRRKYNFDNL | 1490 |
CACNA1I | GILGVQLFKGKFYHCLGVD---------TR>N<ITNRSDCM----AA--NYRWVHHKYNFDNL | 1366 |
CACNA1S | ACIGVQLFKGKFFRCTDLSKMTEEECRGYY>Y<VYKDGDPMQI-ELR--HREWVHSDFHFDNV | 1000 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1377M | c.4131C>G | Putative Benign | SIFT: Polyphen: |