Paralogue Annotation for CACNA1C residue 666

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 666
Reference Amino Acid: S - Serine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 666

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AA715SMyotoniaMedium9 22094069
SCN8AA890TEpileptic encephalopathyMedium9 25568300, 25785782

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.



CACNA1CSLSNLVASLLNSVRSIASLLLLLFLFIIIF>S<LLGMQLFGGKFNFD-E------------MQ683
CACNA1ASLRNLVVSLLNSMKSIISLLFLLFLFIVVF>A<LLGMQLFGGQFNFD-E------------G-645
CACNA1BSLRNLVVSLLNSMKSIISLLFLLFLFIVVF>A<LLGMQLFGGQFNFQ-D------------E-641
CACNA1DSLSNLVASLLNSMKSIASLLLLLFLFIIIF>S<LLGMQLFGGKFNFD-E------------TQ702
CACNA1ESLRNLVVSLMSSMKSIISLLFLLFLFIVVF>A<LLGMQLFGGRFNFN-D------------G-634
CACNA1FSLSNLVASLLNSMKSIASLLLLLFLFIIIF>S<LLGMQLFGGKFNFD-Q------------TH688
CACNA1GALQRQLVVLMKTMDNVATFCMLLMLFIFIF>S<ILGMHLFGCKFASER---------DG-DTL900
CACNA1HALRRQLVVLVKTMDNVATFCTLLMLFIFIF>S<ILGMHLFGCKFSLKTD--------TG-DTV951
CACNA1IALRRQLVVLMKTMDNVATFCMLLMLFIFIF>S<ILGMHIFGCKFSLRTD--------TG-DTV798
CACNA1SSLSNLVASLLNSIRSIASLLLLLFLFIVIF>A<LLGMQLFGGRYDFE-D------------TE591
SCN10ATLNTLIKIIGNSVGALGNLTIILAIIVFVF>A<LVGKQLLGENYRNN-RKN----I-SAPHED826
SCN11ATLNTLIKIIGNSVGALGSLTVVLVIVIFIF>S<VVGMQLFGRSFNSQ-KSPKLCNPTGPTVSC745
SCN1ATLNMLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKSYKDC-VCK----I-AS-DCQ928
SCN2ATLNMLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKSYKEC-VCK----I-SN-DCE919
SCN3ATLNMLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKSYKEC-VCK----I-ND-DCT920
SCN4ATLNMLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKSYKEC-VCK----I-AL-DCN738
SCN5ATLNTLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKNYSEL-RDS----D-SG---L875
SCN7ATFQILMWSLSNSWVALKDLVLLLFTFIFFS>A<AFGMKLFGKNYEEF-VCH----I-DK-DCQ665
SCN8ATLNMLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKSYKEC-VCK----I-NQ-DCE913
SCN9ATLNMLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKSYKEC-VCK----I-ND-DCT893
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 666 for CACNA1C.