Paralogue Annotation for CACNA1C residue 1358

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1358
Reference Amino Acid: Q - Glutamine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1358

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP1668AMyoclonic epilepsy of infancyMedium9 12821740
SCN1AP1668LDravet syndrome B ?Medium9 21248271
SCN1AP1668RDravet syndromeMedium9 26096185

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.



CACNA1CFRV---MRLVKLLSRGEGIRTLLWTFIKSF>Q<ALPYVALLIVMLFFIYAVIGMQVFGKIALN1388
CACNA1AFRA---ARLIKLLRQGYTIRILLWTFVQSF>K<ALPYVCLLIAMLFFIYAIIGMQVFGNIGID1720
CACNA1BFRA---ARLIKLLRQGYTIRILLWTFVQSF>K<ALPYVCLLIAMLFFIYAIIGMQVFGNIALD1628
CACNA1DFRV---MRLVKLLSRGEGIRTLLWTFIKSF>Q<ALPYVALLIAMLFFIYAVIGMQMFGKVAMR1398
CACNA1EFRA---ARLIKLLRQGYTIRILLWTFVQSF>K<ALPYVCLLIAMLFFIYAIIGMQVFGNIKLD1635
CACNA1FFRV---MRLVKLLSKGEGIRTLLWTFIKSF>Q<ALPYVALLIAMIFFIYAVIGMQMFGKVALQ1355
CACNA1GMRVLRIARVLKLLKMAVGMRALLDTVMQAL>P<QVGNLGLLFMLLFFIFAALGVELFGDLECD1771
CACNA1HMRVLRIARVLKLLKMATGMRALLDTVVQAL>P<QVGNLGLLFMLLFFIYAALGVELFGRLECS1777
CACNA1IMRVLRIARVLKLLKMATGMRALLDTVVQAL>P<QVGNLGLLFMLLFFIYAALGVELFGKLVCN1647
CACNA1SFRV---MRLIKLLSRAEGVRTLLWTFIKSF>Q<ALPYVALLIVMLFFIYAVIGMQMFGKIALV1295
SCN10AIRLARIGRILRLIRAAKGIRTLLFALMMSL>P<ALFNIGLLLFLVMFIYSIFGMSSFPHVRW-1634
SCN11AVRLARIGRILRLVRAARGIRTLLFALMMSL>P<SLFNIGLLLFLIMFIYAILGMNWFSKVNP-1524
SCN1AIRLARIGRILRLIKGAKGIRTLLFALMMSL>P<ALFNIGLLLFLVMFIYAIFGMSNFAYVKR-1697
SCN2AIRLARIGRILRLIKGAKGIRTLLFALMMSL>P<ALFNIGLLLFLVMFIYAIFGMSNFAYVKR-1687
SCN3AIRLARIGRILRLIKGAKGIRTLLFALMMSL>P<ALFNIGLLLFLVMFIYAIFGMSNFAYVKK-1682
SCN4AIRLARIGRVLRLIRGAKGIRTLLFALMMSL>P<ALFNIGLLLFLVMFIYSIFGMSNFAYVKK-1509
SCN5AIRLARIGRILRLIRGAKGIRTLLFALMMSL>P<ALFNIGLLLFLVMFIYSIFGMANFAYVKW-1684
SCN7AILLSRIIHMLRLGKGPKVFHNLMLPLMLSL>P<ALLNIILLIFLVMFIYAVFGMYNFAYVKK-1407
SCN8AIRLARIGRILRLIKGAKGIRTLLFALMMSL>P<ALFNIGLLLFLVMFIFSIFGMSNFAYVKH-1678
SCN9AIRLARIGRILRLVKGAKGIRTLLFALMMSL>P<ALFNIGLLLFLVMFIYAIFGMSNFAYVKK-1660
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1358 for CACNA1C.