No paralogue variants have been mapped to residue 1389 for CACNA1C.
CACNA1C | ALPYVALLIVMLFFIYAVIGMQVFGKIALN>D<---TTE-----INRNNNFQTFPQAVLLLFR | 1411 |
CACNA1A | ALPYVCLLIAMLFFIYAIIGMQVFGNIGID>V<EDEDSDEDEFQITEHNNFRTFFQALMLLFR | 1751 |
CACNA1B | ALPYVCLLIAMLFFIYAIIGMQVFGNIALD>D<---DTS-----INRHNNFRTFLQALMLLFR | 1651 |
CACNA1D | ALPYVALLIAMLFFIYAVIGMQMFGKVAMR>D<---NNQ-----INRNNNFQTFPQAVLLLFR | 1421 |
CACNA1E | ALPYVCLLIAMLFFIYAIIGMQVFGNIKLD>E<---ESH-----INRHNNFRSFFGSLMLLFR | 1658 |
CACNA1F | ALPYVALLIAMIFFIYAVIGMQMFGKVALQ>D<---GTQ-----INRNNNFQTFPQAVLLLFR | 1378 |
CACNA1G | QVGNLGLLFMLLFFIFAALGVELFGDLECD>E<T---HP--CEGLGRHATFRNFGMAFLTLFR | 1797 |
CACNA1H | QVGNLGLLFMLLFFIYAALGVELFGRLECS>E<D---NP--CEGLSRHATFSNFGMAFLTLFR | 1803 |
CACNA1I | QVGNLGLLFMLLFFIYAALGVELFGKLVCN>D<E---NP--CEGMSRHATFENFGMAFLTLFQ | 1673 |
CACNA1S | ALPYVALLIVMLFFIYAVIGMQMFGKIALV>D<---GTQ-----INRNNNFQTFPQAVLLLFR | 1318 |
SCN10A | ALFNIGLLLFLVMFIYSIFGMSSFPHVRW->-<---EAG-----IDDMFNFQTFANSMLCLFQ | 1656 |
SCN11A | SLFNIGLLLFLIMFIYAILGMNWFSKVNP->-<---ESG-----IDDIFNFKTFASSMLCLFQ | 1546 |
SCN1A | ALFNIGLLLFLVMFIYAIFGMSNFAYVKR->-<---EVG-----IDDMFNFETFGNSMICLFQ | 1719 |
SCN2A | ALFNIGLLLFLVMFIYAIFGMSNFAYVKR->-<---EVG-----IDDMFNFETFGNSMICLFQ | 1709 |
SCN3A | ALFNIGLLLFLVMFIYAIFGMSNFAYVKK->-<---EAG-----IDDMFNFETFGNSMICLFQ | 1704 |
SCN4A | ALFNIGLLLFLVMFIYSIFGMSNFAYVKK->-<---ESG-----IDDMFNFETFGNSIICLFE | 1531 |
SCN5A | ALFNIGLLLFLVMFIYSIFGMANFAYVKW->-<---EAG-----IDDMFNFQTFANSMLCLFQ | 1706 |
SCN7A | ALLNIILLIFLVMFIYAVFGMYNFAYVKK->-<---EAG-----INDVSNFETFGNSMLCLFQ | 1429 |
SCN8A | ALFNIGLLLFLVMFIFSIFGMSNFAYVKH->-<---EAG-----IDDMFNFETFGNSMICLFQ | 1700 |
SCN9A | ALFNIGLLLFLVMFIYAIFGMSNFAYVKK->-<---EDG-----INDMFNFETFGNSMICLFQ | 1682 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1389H | c.4165G>C | Putative Benign | SIFT: Polyphen: |