Paralogue Annotation for CACNA1C residue 644

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 644
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 644

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AI693TParamyotonia congenitaMedium9 8902732, 22926674, 26494408
SCN9AI848TErythermalgia, primaryMedium9 14985375, 15385606, 21115638, 23383113, 26920677, 25993546, 25993546
SCN4AI693LMyotonia & paralytic episodesMedium9 22257501, 25724373
SCN4AI693MMyotonia, sodium channelMedium9 25088311

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.



CACNA1CLGISVLRCVRLLRIFKITRYWNSLSNLVAS>L<LNSVRSIASLLLLLFLFIIIFSLLGMQLFG674
CACNA1AFGISVLRALRLLRIFKVTKYWASLRNLVVS>L<LNSMKSIISLLFLLFLFIVVFALLGMQLFG637
CACNA1BFGISVLRALRLLRIFKVTKYWSSLRNLVVS>L<LNSMKSIISLLFLLFLFIVVFALLGMQLFG633
CACNA1DLGISVFRCVRLLRIFKVTRHWTSLSNLVAS>L<LNSMKSIASLLLLLFLFIIIFSLLGMQLFG693
CACNA1EFGISVLRALRLLRIFKITKYWASLRNLVVS>L<MSSMKSIISLLFLLFLFIVVFALLGMQLFG626
CACNA1FLGISVLRCVRLLRIFKVTRHWASLSNLVAS>L<LNSMKSIASLLLLLFLFIIIFSLLGMQLFG679
CACNA1G-GLSVLRTFRLMRVLKLVRFLPALQRQLVV>L<MKTMDNVATFCMLLMLFIFIFSILGMHLFG888
CACNA1H-GLSVLRTFRLLRVLKLVRFLPALRRQLVV>L<VKTMDNVATFCTLLMLFIFIFSILGMHLFG938
CACNA1I-GLSVLRTFRLLRVLKLVRFMPALRRQLVV>L<MKTMDNVATFCMLLMLFIFIFSILGMHIFG785
CACNA1SLGISVLRCIRLLRIFKITKYWTSLSNLVAS>L<LNSIRSIASLLLLLFLFIVIFALLGMQLFG582
SCN10A-SLSVLRSFRLLRVFKLAKSWPTLNTLIKI>I<GNSVGALGNLTIILAIIVFVFALVGKQLLG810
SCN11A-SWPFLRSFRVLRVFKLAKSWPTLNTLIKI>I<GNSVGALGSLTVVLVIVIFIFSVVGMQLFG724
SCN1A-GLSVLRSFRLLRVFKLAKSWPTLNMLIKI>I<GNSVGALGNLTLVLAIIVFIFAVVGMQLFG913
SCN2A-GLSVLRSFRLLRVFKLAKSWPTLNMLIKI>I<GNSVGALGNLTLVLAIIVFIFAVVGMQLFG904
SCN3A-GLSVLRSFRLLRVFKLAKSWPTLNMLIKI>I<GNSVGALGNLTLVLAIIVFIFAVVGMQLFG905
SCN4A-GLSVLRSFRLLRVFKLAKSWPTLNMLIKI>I<GNSVGALGNLTLVLAIIVFIFAVVGMQLFG723
SCN5A-NLSVLRSFRLLRVFKLAKSWPTLNTLIKI>I<GNSVGALGNLTLVLAIIVFIFAVVGMQLFG862
SCN7A-GMALLRLFRMLRIFKLGKYWPTFQILMWS>L<SNSWVALKDLVLLLFTFIFFSAAFGMKLFG650
SCN8A-GLSVLRSFRLLRVFKLAKSWPTLNMLIKI>I<GNSVGALGNLTLVLAIIVFIFAVVGMQLFG898
SCN9A-GLSVLRSFRLLRVFKLAKSWPTLNMLIKI>I<GNSVGALGNLTLVLAIIVFIFAVVGMQLFG878
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Leu644Trpc.1931T>G UnknownSIFT:
Polyphen: