Paralogue Annotation for CACNA1C residue 651

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 651
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 651

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL839PBrugada syndromeMedium9 16426410, 24136861
SCN1AL890PDravet syndrome C ?Medium9 21248271
SCN8AL875QLennox-Gastaut syndromeMedium9 23934111

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.



CACNA1CCVRLLRIFKITRYWNSLSNLVASLLNSVRS>I<ASLLLLLFLFIIIFSLLGMQLFGGKFNFD-680
CACNA1AALRLLRIFKVTKYWASLRNLVVSLLNSMKS>I<ISLLFLLFLFIVVFALLGMQLFGGQFNFD-643
CACNA1BALRLLRIFKVTKYWSSLRNLVVSLLNSMKS>I<ISLLFLLFLFIVVFALLGMQLFGGQFNFQ-639
CACNA1DCVRLLRIFKVTRHWTSLSNLVASLLNSMKS>I<ASLLLLLFLFIIIFSLLGMQLFGGKFNFD-699
CACNA1EALRLLRIFKITKYWASLRNLVVSLMSSMKS>I<ISLLFLLFLFIVVFALLGMQLFGGRFNFN-632
CACNA1FCVRLLRIFKVTRHWASLSNLVASLLNSMKS>I<ASLLLLLFLFIIIFSLLGMQLFGGKFNFD-685
CACNA1GTFRLMRVLKLVRFLPALQRQLVVLMKTMDN>V<ATFCMLLMLFIFIFSILGMHLFGCKFASER895
CACNA1HTFRLLRVLKLVRFLPALRRQLVVLVKTMDN>V<ATFCTLLMLFIFIFSILGMHLFGCKFSLKT945
CACNA1ITFRLLRVLKLVRFMPALRRQLVVLMKTMDN>V<ATFCMLLMLFIFIFSILGMHIFGCKFSLRT792
CACNA1SCIRLLRIFKITKYWTSLSNLVASLLNSIRS>I<ASLLLLLFLFIVIFALLGMQLFGGRYDFE-588
SCN10ASFRLLRVFKLAKSWPTLNTLIKIIGNSVGA>L<GNLTIILAIIVFVFALVGKQLLGENYRNN-816
SCN11ASFRVLRVFKLAKSWPTLNTLIKIIGNSVGA>L<GSLTVVLVIVIFIFSVVGMQLFGRSFNSQ-730
SCN1ASFRLLRVFKLAKSWPTLNMLIKIIGNSVGA>L<GNLTLVLAIIVFIFAVVGMQLFGKSYKDC-919
SCN2ASFRLLRVFKLAKSWPTLNMLIKIIGNSVGA>L<GNLTLVLAIIVFIFAVVGMQLFGKSYKEC-910
SCN3ASFRLLRVFKLAKSWPTLNMLIKIIGNSVGA>L<GNLTLVLAIIVFIFAVVGMQLFGKSYKEC-911
SCN4ASFRLLRVFKLAKSWPTLNMLIKIIGNSVGA>L<GNLTLVLAIIVFIFAVVGMQLFGKSYKEC-729
SCN5ASFRLLRVFKLAKSWPTLNTLIKIIGNSVGA>L<GNLTLVLAIIVFIFAVVGMQLFGKNYSEL-868
SCN7ALFRMLRIFKLGKYWPTFQILMWSLSNSWVA>L<KDLVLLLFTFIFFSAAFGMKLFGKNYEEF-656
SCN8ASFRLLRVFKLAKSWPTLNMLIKIIGNSVGA>L<GNLTLVLAIIVFIFAVVGMQLFGKSYKEC-904
SCN9ASFRLLRVFKLAKSWPTLNMLIKIIGNSVGA>L<GNLTLVLAIIVFIFAVVGMQLFGKSYKEC-884
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 651 for CACNA1C.