Paralogue Annotation for CACNA1C residue 1365

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1365
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1365

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1675RDravet syndromeHigh9 18930999

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.



CACNA1CRLVKLLSRGEGIRTLLWTFIKSFQALPYVA>L<LIVMLFFIYAVIGMQVFGKIALND---TTE1392
CACNA1ARLIKLLRQGYTIRILLWTFVQSFKALPYVC>L<LIAMLFFIYAIIGMQVFGNIGIDVEDEDSD1727
CACNA1BRLIKLLRQGYTIRILLWTFVQSFKALPYVC>L<LIAMLFFIYAIIGMQVFGNIALDD---DTS1632
CACNA1DRLVKLLSRGEGIRTLLWTFIKSFQALPYVA>L<LIAMLFFIYAVIGMQMFGKVAMRD---NNQ1402
CACNA1ERLIKLLRQGYTIRILLWTFVQSFKALPYVC>L<LIAMLFFIYAIIGMQVFGNIKLDE---ESH1639
CACNA1FRLVKLLSKGEGIRTLLWTFIKSFQALPYVA>L<LIAMIFFIYAVIGMQMFGKVALQD---GTQ1359
CACNA1GRVLKLLKMAVGMRALLDTVMQALPQVGNLG>L<LFMLLFFIFAALGVELFGDLECDET---HP1775
CACNA1HRVLKLLKMATGMRALLDTVVQALPQVGNLG>L<LFMLLFFIYAALGVELFGRLECSED---NP1781
CACNA1IRVLKLLKMATGMRALLDTVVQALPQVGNLG>L<LFMLLFFIYAALGVELFGKLVCNDE---NP1651
CACNA1SRLIKLLSRAEGVRTLLWTFIKSFQALPYVA>L<LIVMLFFIYAVIGMQMFGKIALVD---GTQ1299
SCN10ARILRLIRAAKGIRTLLFALMMSLPALFNIG>L<LLFLVMFIYSIFGMSSFPHVRW-----EAG1637
SCN11ARILRLVRAARGIRTLLFALMMSLPSLFNIG>L<LLFLIMFIYAILGMNWFSKVNP-----ESG1527
SCN1ARILRLIKGAKGIRTLLFALMMSLPALFNIG>L<LLFLVMFIYAIFGMSNFAYVKR-----EVG1700
SCN2ARILRLIKGAKGIRTLLFALMMSLPALFNIG>L<LLFLVMFIYAIFGMSNFAYVKR-----EVG1690
SCN3ARILRLIKGAKGIRTLLFALMMSLPALFNIG>L<LLFLVMFIYAIFGMSNFAYVKK-----EAG1685
SCN4ARVLRLIRGAKGIRTLLFALMMSLPALFNIG>L<LLFLVMFIYSIFGMSNFAYVKK-----ESG1512
SCN5ARILRLIRGAKGIRTLLFALMMSLPALFNIG>L<LLFLVMFIYSIFGMANFAYVKW-----EAG1687
SCN7AHMLRLGKGPKVFHNLMLPLMLSLPALLNII>L<LIFLVMFIYAVFGMYNFAYVKK-----EAG1410
SCN8ARILRLIKGAKGIRTLLFALMMSLPALFNIG>L<LLFLVMFIFSIFGMSNFAYVKH-----EAG1681
SCN9ARILRLVKGAKGIRTLLFALMMSLPALFNIG>L<LLFLVMFIYAIFGMSNFAYVKK-----EDG1663
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1365 for CACNA1C.