Paralogue Annotation for CACNA1C residue 1482

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1482
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1482

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1792TMyoclonic epilepsy of infancyMedium9 23195492
SCN1AA1792GDravet syndromeMedium9 23808377

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.



CACNA1CAVFYFISFYMLCAFLIINLFVAVIMDNFDY>L<TRDWSI-LGPHHLDEFKRIWAEYDPEAKGR1511
CACNA1AAYFYFVSFIFLCSFLMLNLFVAVIMDNFEY>L<TRDSSI-LGPHHLDEYVRVWAEYDPAACGR1846
CACNA1BAYFYFVSFIFLCSFLMLNLFVAVIMDNFEY>L<TRDSSI-LGPHHLDEFIRVWAEYDPAACGR1744
CACNA1DAIVYFISFYMLCAFLIINLFVAVIMDNFDY>L<TRDWSI-LGPHHLDEFKRIWSEYDPEAKGR1519
CACNA1EAYVYFVSFIFFCSFLMLNLFVAVIMDNFEY>L<TRDSSI-LGPHHLDEFVRVWAEYDRAACGR1758
CACNA1FAIAYFISFFMLCAFLIINLFVAVIMDNFDY>L<TRDWSI-LGPHHLDEFKRIWSEYDPGAKGR1476
CACNA1GSPIYFVSFVLTAQFVLVNVVIAVLMKHLEE>S<NKEAKE---EAELEAELELEMKT-LSPQPH1883
CACNA1HSPVYFVTFVLVAQFVLVNVVVAVLMKHLEE>S<NKEARE---DAELDAEIELEMAQGPGSARR1893
CACNA1ISPLYFVSFVLTAQFVLINVVVAVLMKHLDD>S<NKEAQE---DAEMDAELELEMAHGLGPGPR1763
CACNA1SAYYYFISFYMLCAFLVINLFVAVIMDNFDY>L<TRDWSI-LGPHHLDEFKAIWAEYDPEAKGR1416
SCN10AGIIFFTTYIIISFLIMVNMYIAVILENFNV>A<TEESTEPLSEDDFDMFYETWEKFDPEATQF1758
SCN11AATSYFVSYIIISFLIVVNMYIAVILENFNT>A<TEESEDPLGEDDFDIFYEVWEKFDPEATQF1640
SCN1AGIFFFVSYIIISFLVVVNMYIAVILENFSV>A<TEESAEPLSEDDFEMFYEVWEKFDPDATQF1822
SCN2AGIFFFVSYIIISFLVVVNMYIAVILENFSV>A<TEESAEPLSEDDFEMFYEVWEKFDPDATQF1812
SCN3AGIFFFVSYIIISFLVVVNMYIAVILENFSV>A<TEESAEPLSEDDFEMFYEVWEKFDPDATQF1807
SCN4AGICFFCSYIIISFLIVVNMYIAIILENFNV>A<TEESSEPLGEDDFEMFYETWEKFDPDATQF1634
SCN5AGILFFTTYIIISFLIVVNMYIAIILENFSV>A<TEESTEPLSEDDFDMFYEIWEKFDPEATQF1808
SCN7AGIFYFVSYILISWLIIVNMYIVVVMEFLNI>A<SKKKNKTLSEDDFRKFFQVWKRFDPDRTQY1532
SCN8AGIFFFVSYIIISFLIVVNMYIAIILENFSV>A<TEESADPLSEDDFETFYEIWEKFDPDATQF1802
SCN9AGIFYFVSYIIISFLVVVNMYIAVILENFSV>A<TEESTEPLSEDDFEMFYEVWEKFDPDATQF1785
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1482 for CACNA1C.