No paralogue variants have been mapped to residue 301 for CACNA1C.
| CACNA1C | IALLVLFVIIIYAIIGLELFMGKMHKTCYN>Q<EGIAD-------------V----PA---E- | 310 |
| CACNA1A | IGLLLFFAILIFAIIGLEFYMGKFHTTCFE>-<E-GTD------------DI-----Q---G- | 266 |
| CACNA1B | IGLLLFFAILMFAIIGLEFYMGKFHKACFP>-<N-STD------------A------E---P- | 262 |
| CACNA1D | IALLVLFVIIIYAIIGLELFIGKMHKTCFF>-<A-DSD-------------I----VA---E- | 311 |
| CACNA1E | IGLLLFFAILMFAIIGLEFYSGKLHRACFM>-<N-NSG------------IL----EG---F- | 262 |
| CACNA1F | IALLVLFVIIIYAIIGLELFLGRMHKTCYF>-<L-GSD-------------M----EA---E- | 277 |
| CACNA1G | VLLLCFFVFFIFGIVGVQLWAGLLRNRCFL>-<P-ENFSLPLSVD-LE-RYYQT-ENE---DE | 266 |
| CACNA1H | VLLLCFFVFFIFGIVGVQLWAGLLRNRCFL>-<D-SAFVRNNNLTFLR-PYYQT-EEG---EE | 286 |
| CACNA1I | VLLLCFFVFFIFGIIGVQLWAGLLRNRCFL>-<E-ENFTIQGDVA-LP-PYYQP-EED---DE | 264 |
| CACNA1S | IALLVLFMVIIYAIIGLELFKGKMHKTCYF>-<I-GTD-------------I----VATVEN- | 239 |
| SCN10A | VTILTIFCLSVFALVGLQLFKGNLKNKCVK>-<N-------------------DMAVN---E- | 285 |
| SCN11A | VIILTFFCLSIFALVGQQLFMGSLNLKCIS>-<R-------------------DCK-N---I- | 291 |
| SCN1A | VMILTVFCLSVFALIGLQLFMGNLRNKCIQ>-<WP-PTNASLEEH-SI-EKNITVNYN---G- | 302 |
| SCN2A | VMILTVFCLSVFALIGLQLFMGNLRNKCLQ>-<WP-PDNSSFEIN-ITSFFNNSLDGN---G- | 304 |
| SCN3A | VMILTVFCLSVFALIGLQLFMGNLRNKCLQ>-<WP-PSDSAFETN-TTSYFNGTMDSN---G- | 303 |
| SCN4A | VMILTVFCLSVFALVGLQLFMGNLRQKCVR>-<WP-PPFN--DTN-TTWYSNDTWYGN---D- | 304 |
| SCN5A | VMVLTVFCLSVFALIGLQLFMGNLRHKCVR>-<-------------------NFTALN---G- | 289 |
| SCN7A | VIILTLFFLSIFSLIGMGLFMGNLKHKCFR>-<WP-QENE-----------------N---E- | 277 |
| SCN8A | VMILTVFCLSVFALIGLQLFMGNLRNKCVV>-<WP-------------------INFN---E- | 290 |
| SCN9A | VMILTVFCLSVFALIGLQLFMGNLKHKCFR>-<NS-------------------LENN---E- | 284 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q301E | c.901C>G | Putative Benign | SIFT: tolerated Polyphen: benign |