Paralogue Annotation for CACNA1C residue 658

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 658
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 658

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL846RVentricular fibrillation, idiopathicHigh9 22028457
CACNA1AL621REpisodic ataxiaHigh9 20156848
SCN1AL897SDravet syndromeHigh9 26096185

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.



CACNA1CFKITRYWNSLSNLVASLLNSVRSIASLLLL>L<FLFIIIFSLLGMQLFGGKFNFD-E------681
CACNA1AFKVTKYWASLRNLVVSLLNSMKSIISLLFL>L<FLFIVVFALLGMQLFGGQFNFD-E------644
CACNA1BFKVTKYWSSLRNLVVSLLNSMKSIISLLFL>L<FLFIVVFALLGMQLFGGQFNFQ-D------640
CACNA1DFKVTRHWTSLSNLVASLLNSMKSIASLLLL>L<FLFIIIFSLLGMQLFGGKFNFD-E------700
CACNA1EFKITKYWASLRNLVVSLMSSMKSIISLLFL>L<FLFIVVFALLGMQLFGGRFNFN-D------633
CACNA1FFKVTRHWASLSNLVASLLNSMKSIASLLLL>L<FLFIIIFSLLGMQLFGGKFNFD-Q------686
CACNA1GLKLVRFLPALQRQLVVLMKTMDNVATFCML>L<MLFIFIFSILGMHLFGCKFASER-------895
CACNA1HLKLVRFLPALRRQLVVLVKTMDNVATFCTL>L<MLFIFIFSILGMHLFGCKFSLKTD------946
CACNA1ILKLVRFMPALRRQLVVLMKTMDNVATFCML>L<MLFIFIFSILGMHIFGCKFSLRTD------793
CACNA1SFKITKYWTSLSNLVASLLNSIRSIASLLLL>L<FLFIVIFALLGMQLFGGRYDFE-D------589
SCN10AFKLAKSWPTLNTLIKIIGNSVGALGNLTII>L<AIIVFVFALVGKQLLGENYRNN-RKN----819
SCN11AFKLAKSWPTLNTLIKIIGNSVGALGSLTVV>L<VIVIFIFSVVGMQLFGRSFNSQ-KSPKLCN737
SCN1AFKLAKSWPTLNMLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKSYKDC-VCK----922
SCN2AFKLAKSWPTLNMLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKSYKEC-VCK----913
SCN3AFKLAKSWPTLNMLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKSYKEC-VCK----914
SCN4AFKLAKSWPTLNMLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKSYKEC-VCK----732
SCN5AFKLAKSWPTLNTLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKNYSEL-RDS----871
SCN7AFKLGKYWPTFQILMWSLSNSWVALKDLVLL>L<FTFIFFSAAFGMKLFGKNYEEF-VCH----659
SCN8AFKLAKSWPTLNMLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKSYKEC-VCK----907
SCN9AFKLAKSWPTLNMLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKSYKEC-VCK----887
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 658 for CACNA1C.