Paralogue Annotation for CACNA1C residue 660

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 660
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 660

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI848FLong QT syndromeMedium9 19716085
SCN1AI899TGeneralized epilepsy with febrile seizures plusMedium9 19522081, 23934111

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.



CACNA1CITRYWNSLSNLVASLLNSVRSIASLLLLLF>L<FIIIFSLLGMQLFGGKFNFD-E--------681
CACNA1AVTKYWASLRNLVVSLLNSMKSIISLLFLLF>L<FIVVFALLGMQLFGGQFNFD-E--------644
CACNA1BVTKYWSSLRNLVVSLLNSMKSIISLLFLLF>L<FIVVFALLGMQLFGGQFNFQ-D--------640
CACNA1DVTRHWTSLSNLVASLLNSMKSIASLLLLLF>L<FIIIFSLLGMQLFGGKFNFD-E--------700
CACNA1EITKYWASLRNLVVSLMSSMKSIISLLFLLF>L<FIVVFALLGMQLFGGRFNFN-D--------633
CACNA1FVTRHWASLSNLVASLLNSMKSIASLLLLLF>L<FIIIFSLLGMQLFGGKFNFD-Q--------686
CACNA1GLVRFLPALQRQLVVLMKTMDNVATFCMLLM>L<FIFIFSILGMHLFGCKFASER---------895
CACNA1HLVRFLPALRRQLVVLVKTMDNVATFCTLLM>L<FIFIFSILGMHLFGCKFSLKTD--------946
CACNA1ILVRFMPALRRQLVVLMKTMDNVATFCMLLM>L<FIFIFSILGMHIFGCKFSLRTD--------793
CACNA1SITKYWTSLSNLVASLLNSIRSIASLLLLLF>L<FIVIFALLGMQLFGGRYDFE-D--------589
SCN10ALAKSWPTLNTLIKIIGNSVGALGNLTIILA>I<IVFVFALVGKQLLGENYRNN-RKN----I-820
SCN11ALAKSWPTLNTLIKIIGNSVGALGSLTVVLV>I<VIFIFSVVGMQLFGRSFNSQ-KSPKLCNPT739
SCN1ALAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKDC-VCK----I-923
SCN2ALAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-914
SCN3ALAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-915
SCN4ALAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-733
SCN5ALAKSWPTLNTLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKNYSEL-RDS----D-872
SCN7ALGKYWPTFQILMWSLSNSWVALKDLVLLLF>T<FIFFSAAFGMKLFGKNYEEF-VCH----I-660
SCN8ALAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-908
SCN9ALAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-888
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 660 for CACNA1C.