No paralogue variants have been mapped to residue 2118 for CACNA1C.
CACNA1C | --QDRAGGEEDA----------GCV----->R<ARGRPSEEELQDSRVYVSSL | 2138 |
CACNA1A | ------------------------------>-<------RSPSEGREHMAHRQ | 2261 |
CACNA1B | --RRVPNGYHCTLG-LS------------->-<SGGR--ARHSYHHPDQDHWC | 2340 |
CACNA1D | --LQDFGPGYSD----------E-E----->P<DPGR-DEEDLADEMICITTL | 2181 |
CACNA1E | ---QMPNGHYRRRR-RG-----GPG----->P<GMMCGAVNNLLSDTEEDDKC | 2313 |
CACNA1F | --------LYSD----------E-E----->S<ILSRFDEEDLGDEMACVHAL | 1977 |
CACNA1G | ------------------------------>-<-------------------P | 2377 |
CACNA1H | SEPPMPVGDPPEKRRGLYLTVPQ-CPLEKP>G<SPSA--TPA-PG-GGADDPV | 2353 |
CACNA1I | MGLGPLAPP--------------------P>Q<PLPG--ELE-PGDAASKRKR | 2223 |
CACNA1S | ------------------------G----->S<SLGSLDQHQGSQETLIPPRL | 1873 |
SCN10A | ------------------------------>-<----------TSMELIAPGP | 1956 |
SCN11A | ------------------------------>-<-------------------D | 1791 |
SCN1A | ------------------------------>-<----------KG-------K | 2009 |
SCN2A | ------------------------------>-<----------KGKDIRESKK | 2005 |
SCN3A | ------------------------------>-<----------KGKEVRENQK | 2000 |
SCN4A | ------------------------------>-<----------VRPGVKESLV | 1836 |
SCN5A | ------------------------------>-<------DFPPSPDRDRESIV | 2016 |
SCN7A | ------------------------------>-<---------------IQSQI | 1682 |
SCN8A | ------------------------------>-<----------RQKEVRESKC | 1980 |
SCN9A | ------------------------------>-<----------KGKDSKESKK | 1977 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2118C | c.6352C>T | Putative Benign | SIFT: Polyphen: |