Paralogue Annotation for CACNA1C residue 1363

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1363
Reference Amino Acid: V - Valine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1363

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AV1696IHemiplegic migraineHigh9 11439943, 22549042
CACNA1AV1696FHemipl. migraine/alternating hemipl. of childhoodHigh9 18498393
SCN5AI1660VLong QT syndromeMedium9 16414944, 24136861, 17075016, 17075016, 20812931
SCN1AI1673TDravet syndrome C ?Medium9 21248271
SCN1AI1673SGeneralised epilepsy with febrile seizures plusMedium9 26339958

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.



CACNA1C-MRLVKLLSRGEGIRTLLWTFIKSFQALPY>V<ALLIVMLFFIYAVIGMQVFGKIALND---T1390
CACNA1A-ARLIKLLRQGYTIRILLWTFVQSFKALPY>V<CLLIAMLFFIYAIIGMQVFGNIGIDVEDED1725
CACNA1B-ARLIKLLRQGYTIRILLWTFVQSFKALPY>V<CLLIAMLFFIYAIIGMQVFGNIALDD---D1630
CACNA1D-MRLVKLLSRGEGIRTLLWTFIKSFQALPY>V<ALLIAMLFFIYAVIGMQMFGKVAMRD---N1400
CACNA1E-ARLIKLLRQGYTIRILLWTFVQSFKALPY>V<CLLIAMLFFIYAIIGMQVFGNIKLDE---E1637
CACNA1F-MRLVKLLSKGEGIRTLLWTFIKSFQALPY>V<ALLIAMIFFIYAVIGMQMFGKVALQD---G1357
CACNA1GIARVLKLLKMAVGMRALLDTVMQALPQVGN>L<GLLFMLLFFIFAALGVELFGDLECDET---1773
CACNA1HIARVLKLLKMATGMRALLDTVVQALPQVGN>L<GLLFMLLFFIYAALGVELFGRLECSED---1779
CACNA1IIARVLKLLKMATGMRALLDTVVQALPQVGN>L<GLLFMLLFFIYAALGVELFGKLVCNDE---1649
CACNA1S-MRLIKLLSRAEGVRTLLWTFIKSFQALPY>V<ALLIVMLFFIYAVIGMQMFGKIALVD---G1297
SCN10AIGRILRLIRAAKGIRTLLFALMMSLPALFN>I<GLLLFLVMFIYSIFGMSSFPHVRW-----E1635
SCN11AIGRILRLVRAARGIRTLLFALMMSLPSLFN>I<GLLLFLIMFIYAILGMNWFSKVNP-----E1525
SCN1AIGRILRLIKGAKGIRTLLFALMMSLPALFN>I<GLLLFLVMFIYAIFGMSNFAYVKR-----E1698
SCN2AIGRILRLIKGAKGIRTLLFALMMSLPALFN>I<GLLLFLVMFIYAIFGMSNFAYVKR-----E1688
SCN3AIGRILRLIKGAKGIRTLLFALMMSLPALFN>I<GLLLFLVMFIYAIFGMSNFAYVKK-----E1683
SCN4AIGRVLRLIRGAKGIRTLLFALMMSLPALFN>I<GLLLFLVMFIYSIFGMSNFAYVKK-----E1510
SCN5AIGRILRLIRGAKGIRTLLFALMMSLPALFN>I<GLLLFLVMFIYSIFGMANFAYVKW-----E1685
SCN7AIIHMLRLGKGPKVFHNLMLPLMLSLPALLN>I<ILLIFLVMFIYAVFGMYNFAYVKK-----E1408
SCN8AIGRILRLIKGAKGIRTLLFALMMSLPALFN>I<GLLLFLVMFIFSIFGMSNFAYVKH-----E1679
SCN9AIGRILRLVKGAKGIRTLLFALMMSLPALFN>I<GLLLFLVMFIYAIFGMSNFAYVKK-----E1661
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1363 for CACNA1C.