Paralogue Annotation for CACNA1C residue 1364

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1364
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1364

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG1661RBrugada syndromeMedium9 20129283, 24136861
SCN5AG1661RBrugada syndromeMedium9 20129283, 24136861
SCN1AG1674RMyoclonic epilepsy of infancyMedium9 12083760, 15263074, 23086956
SCN1AG1674SAcute encephalopathy with biphasic seizures & lateMedium9 26311622

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.



CACNA1CMRLVKLLSRGEGIRTLLWTFIKSFQALPYV>A<LLIVMLFFIYAVIGMQVFGKIALND---TT1391
CACNA1AARLIKLLRQGYTIRILLWTFVQSFKALPYV>C<LLIAMLFFIYAIIGMQVFGNIGIDVEDEDS1726
CACNA1BARLIKLLRQGYTIRILLWTFVQSFKALPYV>C<LLIAMLFFIYAIIGMQVFGNIALDD---DT1631
CACNA1DMRLVKLLSRGEGIRTLLWTFIKSFQALPYV>A<LLIAMLFFIYAVIGMQMFGKVAMRD---NN1401
CACNA1EARLIKLLRQGYTIRILLWTFVQSFKALPYV>C<LLIAMLFFIYAIIGMQVFGNIKLDE---ES1638
CACNA1FMRLVKLLSKGEGIRTLLWTFIKSFQALPYV>A<LLIAMIFFIYAVIGMQMFGKVALQD---GT1358
CACNA1GARVLKLLKMAVGMRALLDTVMQALPQVGNL>G<LLFMLLFFIFAALGVELFGDLECDET---H1774
CACNA1HARVLKLLKMATGMRALLDTVVQALPQVGNL>G<LLFMLLFFIYAALGVELFGRLECSED---N1780
CACNA1IARVLKLLKMATGMRALLDTVVQALPQVGNL>G<LLFMLLFFIYAALGVELFGKLVCNDE---N1650
CACNA1SMRLIKLLSRAEGVRTLLWTFIKSFQALPYV>A<LLIVMLFFIYAVIGMQMFGKIALVD---GT1298
SCN10AGRILRLIRAAKGIRTLLFALMMSLPALFNI>G<LLLFLVMFIYSIFGMSSFPHVRW-----EA1636
SCN11AGRILRLVRAARGIRTLLFALMMSLPSLFNI>G<LLLFLIMFIYAILGMNWFSKVNP-----ES1526
SCN1AGRILRLIKGAKGIRTLLFALMMSLPALFNI>G<LLLFLVMFIYAIFGMSNFAYVKR-----EV1699
SCN2AGRILRLIKGAKGIRTLLFALMMSLPALFNI>G<LLLFLVMFIYAIFGMSNFAYVKR-----EV1689
SCN3AGRILRLIKGAKGIRTLLFALMMSLPALFNI>G<LLLFLVMFIYAIFGMSNFAYVKK-----EA1684
SCN4AGRVLRLIRGAKGIRTLLFALMMSLPALFNI>G<LLLFLVMFIYSIFGMSNFAYVKK-----ES1511
SCN5AGRILRLIRGAKGIRTLLFALMMSLPALFNI>G<LLLFLVMFIYSIFGMANFAYVKW-----EA1686
SCN7AIHMLRLGKGPKVFHNLMLPLMLSLPALLNI>I<LLIFLVMFIYAVFGMYNFAYVKK-----EA1409
SCN8AGRILRLIKGAKGIRTLLFALMMSLPALFNI>G<LLLFLVMFIFSIFGMSNFAYVKH-----EA1680
SCN9AGRILRLVKGAKGIRTLLFALMMSLPALFNI>G<LLLFLVMFIYAIFGMSNFAYVKK-----ED1662
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1364 for CACNA1C.