Paralogue Annotation for CACNA1C residue 643

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 643
Reference Amino Acid: S - Serine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 643

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AI873MEpileptic encephalopathy, early infantile with movMedium9 26993267

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.



CACNA1CPLGISVLRCVRLLRIFKITRYWNSLSNLVA>S<LLNSVRSIASLLLLLFLFIIIFSLLGMQLF673
CACNA1ASFGISVLRALRLLRIFKVTKYWASLRNLVV>S<LLNSMKSIISLLFLLFLFIVVFALLGMQLF636
CACNA1BSFGISVLRALRLLRIFKVTKYWSSLRNLVV>S<LLNSMKSIISLLFLLFLFIVVFALLGMQLF632
CACNA1DPLGISVFRCVRLLRIFKVTRHWTSLSNLVA>S<LLNSMKSIASLLLLLFLFIIIFSLLGMQLF692
CACNA1ESFGISVLRALRLLRIFKITKYWASLRNLVV>S<LMSSMKSIISLLFLLFLFIVVFALLGMQLF625
CACNA1FPLGISVLRCVRLLRIFKVTRHWASLSNLVA>S<LLNSMKSIASLLLLLFLFIIIFSLLGMQLF678
CACNA1G--GLSVLRTFRLMRVLKLVRFLPALQRQLV>V<LMKTMDNVATFCMLLMLFIFIFSILGMHLF887
CACNA1H--GLSVLRTFRLLRVLKLVRFLPALRRQLV>V<LVKTMDNVATFCTLLMLFIFIFSILGMHLF937
CACNA1I--GLSVLRTFRLLRVLKLVRFMPALRRQLV>V<LMKTMDNVATFCMLLMLFIFIFSILGMHIF784
CACNA1SPLGISVLRCIRLLRIFKITKYWTSLSNLVA>S<LLNSIRSIASLLLLLFLFIVIFALLGMQLF581
SCN10A--SLSVLRSFRLLRVFKLAKSWPTLNTLIK>I<IGNSVGALGNLTIILAIIVFVFALVGKQLL809
SCN11A--SWPFLRSFRVLRVFKLAKSWPTLNTLIK>I<IGNSVGALGSLTVVLVIVIFIFSVVGMQLF723
SCN1A--GLSVLRSFRLLRVFKLAKSWPTLNMLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF912
SCN2A--GLSVLRSFRLLRVFKLAKSWPTLNMLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF903
SCN3A--GLSVLRSFRLLRVFKLAKSWPTLNMLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF904
SCN4A--GLSVLRSFRLLRVFKLAKSWPTLNMLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF722
SCN5A--NLSVLRSFRLLRVFKLAKSWPTLNTLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF861
SCN7A--GMALLRLFRMLRIFKLGKYWPTFQILMW>S<LSNSWVALKDLVLLLFTFIFFSAAFGMKLF649
SCN8A--GLSVLRSFRLLRVFKLAKSWPTLNMLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF897
SCN9A--GLSVLRSFRLLRVFKLAKSWPTLNMLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF877
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 643 for CACNA1C.