Paralogue Annotation for CACNA1C residue 657

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 657
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 657

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV896LDravet syndromeMedium9 18930999
SCN1AV896IDravet syndromeMedium9 22780858, 23195492
SCN1AV896FMyoclonic epilepsy, borderlineMedium9 23195492

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.



CACNA1CIFKITRYWNSLSNLVASLLNSVRSIASLLL>L<LFLFIIIFSLLGMQLFGGKFNFD-E-----681
CACNA1AIFKVTKYWASLRNLVVSLLNSMKSIISLLF>L<LFLFIVVFALLGMQLFGGQFNFD-E-----644
CACNA1BIFKVTKYWSSLRNLVVSLLNSMKSIISLLF>L<LFLFIVVFALLGMQLFGGQFNFQ-D-----640
CACNA1DIFKVTRHWTSLSNLVASLLNSMKSIASLLL>L<LFLFIIIFSLLGMQLFGGKFNFD-E-----700
CACNA1EIFKITKYWASLRNLVVSLMSSMKSIISLLF>L<LFLFIVVFALLGMQLFGGRFNFN-D-----633
CACNA1FIFKVTRHWASLSNLVASLLNSMKSIASLLL>L<LFLFIIIFSLLGMQLFGGKFNFD-Q-----686
CACNA1GVLKLVRFLPALQRQLVVLMKTMDNVATFCM>L<LMLFIFIFSILGMHLFGCKFASER------895
CACNA1HVLKLVRFLPALRRQLVVLVKTMDNVATFCT>L<LMLFIFIFSILGMHLFGCKFSLKTD-----946
CACNA1IVLKLVRFMPALRRQLVVLMKTMDNVATFCM>L<LMLFIFIFSILGMHIFGCKFSLRTD-----793
CACNA1SIFKITKYWTSLSNLVASLLNSIRSIASLLL>L<LFLFIVIFALLGMQLFGGRYDFE-D-----589
SCN10AVFKLAKSWPTLNTLIKIIGNSVGALGNLTI>I<LAIIVFVFALVGKQLLGENYRNN-RKN---819
SCN11AVFKLAKSWPTLNTLIKIIGNSVGALGSLTV>V<LVIVIFIFSVVGMQLFGRSFNSQ-KSPKLC736
SCN1AVFKLAKSWPTLNMLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKSYKDC-VCK---922
SCN2AVFKLAKSWPTLNMLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKSYKEC-VCK---913
SCN3AVFKLAKSWPTLNMLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKSYKEC-VCK---914
SCN4AVFKLAKSWPTLNMLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKSYKEC-VCK---732
SCN5AVFKLAKSWPTLNTLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKNYSEL-RDS---871
SCN7AIFKLGKYWPTFQILMWSLSNSWVALKDLVL>L<LFTFIFFSAAFGMKLFGKNYEEF-VCH---659
SCN8AVFKLAKSWPTLNMLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKSYKEC-VCK---907
SCN9AVFKLAKSWPTLNMLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKSYKEC-VCK---887
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 657 for CACNA1C.