No paralogue variants have been mapped to residue 1067 for CACNA1C.
CACNA1C | TLLQFMFACIGVQLFKGKLYTCSDSSKQTE>A<ECKGNYITYKDGEVDHP-IIQ--PRSWENS | 1094 |
CACNA1A | MLFMFIFAVVAVQLFKGKFFHCTDESKEFE>K<DCRGKYLLYEKNEVK----AR--DREWKKY | 1439 |
CACNA1B | MLFMFIFAVIAVQLFKGKFFYCTDESKELE>R<DCRGQYLDYEKEEVE----AQ--PRQWKKY | 1345 |
CACNA1D | TLLQFMFACIGVQLFKGKFYRCTDEAKSNP>E<ECRGLFILYKDGDVDSP-VVR--ERIWQNS | 1100 |
CACNA1E | KLFMFIFAVIAVQLFKGKFFYCTDSSKDTE>K<ECIGNYVDHEKNKME----VK--GREWKRH | 1351 |
CACNA1F | TLLQFMFACIGVQLFKGKFYTCTDEAKHTP>Q<ECKGSFLVYPDGDVSRP-LVR--ERLWVNS | 1065 |
CACNA1G | CAFFIIFGILGVQLFKGKFFVCQGED---->-<----TRNITNKSDCA----EA--SYRWVRH | 1465 |
CACNA1H | CAFFIIFGILGVQLFKGKFYYCEGPD---->-<----TRNISTKAQCR----AA--HYRWVRR | 1483 |
CACNA1I | CAFFIIFGILGVQLFKGKFYHCLGVD---->-<----TRNITNRSDCM----AA--NYRWVHH | 1359 |
CACNA1S | TLLQFMFACIGVQLFKGKFFRCTDLSKMTE>E<ECRGYYYVYKDGDPMQI-ELR--HREWVHS | 993 |
SCN10A | LIFWLIFSIMGVNLFAGKFWRCINYTDGEF>-<SLVPLSIVNNKSDCKIQNSTGS--FFWVNV | 1346 |
SCN11A | LIFWLVFCILGVYFFSGKFGKCINGTDSVI>-<---NYTIITNKSQCESGN------FSWINQ | 1236 |
SCN1A | LIFWLIFSIMGVNLFAGKFYHCINTTTGDR>-<--FDIEDVNNHTDCLKLIERNET-ARWKNV | 1411 |
SCN2A | LIFWLIFSIMGVNLFAGKFYHCINYTTGEM>-<--FDVSVVNNYSECKALIESNQT-ARWKNV | 1401 |
SCN3A | LIFWLIFSIMGVNLFAGKFYHCVNMTTGNM>-<--FDISDVNNLSDCQALGK--Q--ARWKNV | 1396 |
SCN4A | LIFWLIFSIMGVNLFAGKFYYCINTTTSER>-<--FDISEVNNKSECESLMHTGQ--VRWLNV | 1223 |
SCN5A | LIFWLIFSIMGVNLFAGKFGRCINQTEGDL>-<P-LNYTIVNNKSQCESLNLTGE--LYWTKV | 1398 |
SCN7A | LMIWLIFSIMGVDLFAGRFYECIDPTSGER>-<--FPSSEVMNKSRCESLLFNES--MLWENA | 1121 |
SCN8A | LIFWLIFSIMGVNLFAGKYHYCFNETSEIR>-<--FEIEDVNNKTECEKLMEGNNTEIRWKNV | 1392 |
SCN9A | LIFWLIFSIMGVNLFAGKFYECINTTDGSR>-<--FPASQVPNRSECFALMNVSQN-VRWKNL | 1374 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1067V | c.3200C>T | Putative Benign | SIFT: Polyphen: | ||
p.A1067E | c.3200C>A | Putative Benign | SIFT: tolerated Polyphen: possibly damaging |