No paralogue variants have been mapped to residue 1043 for CACNA1C.
CACNA1C | KGLKHVVQCVFVAIRTIGNIVIVTTLLQFM>F<ACIGVQLFKGKLYTCSDSSKQTEAECKGNY | 1073 |
CACNA1A | PKLKAVFDCVVNSLKNVFNILIVYMLFMFI>F<AVVAVQLFKGKFFHCTDESKEFEKDCRGKY | 1421 |
CACNA1B | PKLKAVFDCVVNSLKNVLNILIVYMLFMFI>F<AVIAVQLFKGKFFYCTDESKELERDCRGQY | 1327 |
CACNA1D | KGLKHVVQCVFVAIRTIGNIMIVTTLLQFM>F<ACIGVQLFKGKFYRCTDEAKSNPEECRGLF | 1079 |
CACNA1E | PKLKAVFDCVVTSLKNVFNILIVYKLFMFI>F<AVIAVQLFKGKFFYCTDSSKDTEKECIGNY | 1333 |
CACNA1F | KGLKHVVQCVFVAIRTIGNIMIVTTLLQFM>F<ACIGVQLFKGKFYTCTDEAKHTPQECKGSF | 1044 |
CACNA1G | QGLKLVVETLMSSLKPIGNIVVICCAFFII>F<GILGVQLFKGKFFVCQGED---------TR | 1447 |
CACNA1H | PGLKLVVETLISSLRPIGNIVLICCAFFII>F<GILGVQLFKGKFYYCEGPD---------TR | 1465 |
CACNA1I | PGLKLVVETLISSLKPIGNIVLICCAFFII>F<GILGVQLFKGKFYHCLGVD---------TR | 1341 |
CACNA1S | KGLKHVVQCMFVAISTIGNIVLVTTLLQFM>F<ACIGVQLFKGKFFRCTDLSKMTEEECRGYY | 972 |
SCN10A | EGMRVVVDALVGAIPSIMNVLLVCLIFWLI>F<SIMGVNLFAGKFWRCINYTDGEF-SLVPLS | 1324 |
SCN11A | EGMKVVVNALIGAIPAILNVLLVCLIFWLV>F<CILGVYFFSGKFGKCINGTDSVI----NYT | 1218 |
SCN1A | EGMRVVVNALLGAIPSIMNVLLVCLIFWLI>F<SIMGVNLFAGKFYHCINTTTGDR---FDIE | 1388 |
SCN2A | EGMRVVVNALLGAIPSIMNVLLVCLIFWLI>F<SIMGVNLFAGKFYHCINYTTGEM---FDVS | 1378 |
SCN3A | EGMRVVVNALVGAIPSIMNVLLVCLIFWLI>F<SIMGVNLFAGKFYHCVNMTTGNM---FDIS | 1376 |
SCN4A | EGMRVVVNALLGAIPSIMNVLLVCLIFWLI>F<SIMGVNLFAGKFYYCINTTTSER---FDIS | 1201 |
SCN5A | EGMRVVVNALVGAIPSIMNVLLVCLIFWLI>F<SIMGVNLFAGKFGRCINQTEGDL-P-LNYT | 1376 |
SCN7A | ERMKVVVRALIKTTLPTLNVFLVCLMIWLI>F<SIMGVDLFAGRFYECIDPTSGER---FPSS | 1099 |
SCN8A | EGMRVVVNALVGAIPSIMNVLLVCLIFWLI>F<SIMGVNLFAGKYHYCFNETSEIR---FEIE | 1368 |
SCN9A | EGMRVVVNALIGAIPSIMNVLLVCLIFWLI>F<SIMGVNLFAGKFYECINTTDGSR---FPAS | 1351 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F1043L | c.3127T>C | Putative Benign | SIFT: deleterious Polyphen: probably damaging |