Paralogue Annotation for CACNA1C residue 663

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 663
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 663

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AF851LBrugada syndromeMedium9 11901046
SCN5AF851LBrugada syndromeMedium9 20129283, 24136861
SCN1AF902CMyoclonic epilepsy of infancyMedium9 12083760, 15263074

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.



CACNA1CYWNSLSNLVASLLNSVRSIASLLLLLFLFI>I<IFSLLGMQLFGGKFNFD-E-----------681
CACNA1AYWASLRNLVVSLLNSMKSIISLLFLLFLFI>V<VFALLGMQLFGGQFNFD-E-----------644
CACNA1BYWSSLRNLVVSLLNSMKSIISLLFLLFLFI>V<VFALLGMQLFGGQFNFQ-D-----------640
CACNA1DHWTSLSNLVASLLNSMKSIASLLLLLFLFI>I<IFSLLGMQLFGGKFNFD-E-----------700
CACNA1EYWASLRNLVVSLMSSMKSIISLLFLLFLFI>V<VFALLGMQLFGGRFNFN-D-----------633
CACNA1FHWASLSNLVASLLNSMKSIASLLLLLFLFI>I<IFSLLGMQLFGGKFNFD-Q-----------686
CACNA1GFLPALQRQLVVLMKTMDNVATFCMLLMLFI>F<IFSILGMHLFGCKFASER---------DG-897
CACNA1HFLPALRRQLVVLVKTMDNVATFCTLLMLFI>F<IFSILGMHLFGCKFSLKTD--------TG-948
CACNA1IFMPALRRQLVVLMKTMDNVATFCMLLMLFI>F<IFSILGMHIFGCKFSLRTD--------TG-795
CACNA1SYWTSLSNLVASLLNSIRSIASLLLLLFLFI>V<IFALLGMQLFGGRYDFE-D-----------589
SCN10ASWPTLNTLIKIIGNSVGALGNLTIILAIIV>F<VFALVGKQLLGENYRNN-RKN----I-SAP823
SCN11ASWPTLNTLIKIIGNSVGALGSLTVVLVIVI>F<IFSVVGMQLFGRSFNSQ-KSPKLCNPTGPT742
SCN1ASWPTLNMLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKSYKDC-VCK----I-AS-925
SCN2ASWPTLNMLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKSYKEC-VCK----I-SN-916
SCN3ASWPTLNMLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKSYKEC-VCK----I-ND-917
SCN4ASWPTLNMLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKSYKEC-VCK----I-AL-735
SCN5ASWPTLNTLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKNYSEL-RDS----D-SG-874
SCN7AYWPTFQILMWSLSNSWVALKDLVLLLFTFI>F<FSAAFGMKLFGKNYEEF-VCH----I-DK-662
SCN8ASWPTLNMLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKSYKEC-VCK----I-NQ-910
SCN9ASWPTLNMLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKSYKEC-VCK----I-ND-890
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 663 for CACNA1C.