Paralogue Annotation for CACNA1C residue 645

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 645
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 645

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG833RLong QT syndromeMedium9 19862833, 25637381, 26332594
CACNA1AL608FHemiplegic migraine and chronic headacheHigh9 26814174
SCN1AG884DDravet syndromeMedium9 27236449

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.



CACNA1CGISVLRCVRLLRIFKITRYWNSLSNLVASL>L<NSVRSIASLLLLLFLFIIIFSLLGMQLFGG675
CACNA1AGISVLRALRLLRIFKVTKYWASLRNLVVSL>L<NSMKSIISLLFLLFLFIVVFALLGMQLFGG638
CACNA1BGISVLRALRLLRIFKVTKYWSSLRNLVVSL>L<NSMKSIISLLFLLFLFIVVFALLGMQLFGG634
CACNA1DGISVFRCVRLLRIFKVTRHWTSLSNLVASL>L<NSMKSIASLLLLLFLFIIIFSLLGMQLFGG694
CACNA1EGISVLRALRLLRIFKITKYWASLRNLVVSL>M<SSMKSIISLLFLLFLFIVVFALLGMQLFGG627
CACNA1FGISVLRCVRLLRIFKVTRHWASLSNLVASL>L<NSMKSIASLLLLLFLFIIIFSLLGMQLFGG680
CACNA1GGLSVLRTFRLMRVLKLVRFLPALQRQLVVL>M<KTMDNVATFCMLLMLFIFIFSILGMHLFGC889
CACNA1HGLSVLRTFRLLRVLKLVRFLPALRRQLVVL>V<KTMDNVATFCTLLMLFIFIFSILGMHLFGC939
CACNA1IGLSVLRTFRLLRVLKLVRFMPALRRQLVVL>M<KTMDNVATFCMLLMLFIFIFSILGMHIFGC786
CACNA1SGISVLRCIRLLRIFKITKYWTSLSNLVASL>L<NSIRSIASLLLLLFLFIVIFALLGMQLFGG583
SCN10ASLSVLRSFRLLRVFKLAKSWPTLNTLIKII>G<NSVGALGNLTIILAIIVFVFALVGKQLLGE811
SCN11ASWPFLRSFRVLRVFKLAKSWPTLNTLIKII>G<NSVGALGSLTVVLVIVIFIFSVVGMQLFGR725
SCN1AGLSVLRSFRLLRVFKLAKSWPTLNMLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK914
SCN2AGLSVLRSFRLLRVFKLAKSWPTLNMLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK905
SCN3AGLSVLRSFRLLRVFKLAKSWPTLNMLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK906
SCN4AGLSVLRSFRLLRVFKLAKSWPTLNMLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK724
SCN5ANLSVLRSFRLLRVFKLAKSWPTLNTLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK863
SCN7AGMALLRLFRMLRIFKLGKYWPTFQILMWSL>S<NSWVALKDLVLLLFTFIFFSAAFGMKLFGK651
SCN8AGLSVLRSFRLLRVFKLAKSWPTLNMLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK899
SCN9AGLSVLRSFRLLRVFKLAKSWPTLNMLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK879
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 645 for CACNA1C.