Paralogue Annotation for CACNA1C residue 363

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 363
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 363

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD382NEpilepsy ?Medium9 21248271
SCN1AD382EDravet syndromeMedium9 24168886

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.



CACNA1CKPGWDGPKHGITNFDNFAFAMLTVFQCITM>E<GWTDVLYWVNDAVGRDWPWIYFVTLIIIGS393
CACNA1AQPYWEGPNNGITQFDNILFAVLTVFQCITM>E<GWTDLLYNSNDASGNTWNWLYFIPLIIIGS348
CACNA1BREYWPGPNFGITNFDNILFAILTVFQCITM>E<GWTDILYNTNDAAGNTWNWLYFIPLIIIGS344
CACNA1DRSGWVGPNGGITNFDNFAFAMLTVFQCITM>E<GWTDVLYWVNDAIGWEWPWVYFVSLIILGS394
CACNA1E-KDWIGPNDGITQFDNILFAVLTVFQCITM>E<GWTTVLYNTNDALGATWNWLYFIPLIIIGS339
CACNA1FRGRWPGPNGGITNFDNFFFAMLTVFQCVTM>E<GWTDVLYWMQDAMGYELPWVYFVSLVIFGS360
CACNA1GSAGEHNPFKGAINFDNIGYAWIAIFQVITL>E<GWVDIMYFVMDAHSF-YNFIYFILLIIVGS383
CACNA1HRSGDSNPHNGAINFDNIGYAWIAIFQVITL>E<GWVDIMYYVMDAHSF-YNFIYFILLIIVGS407
CACNA1IRTGSANPHKGAINFDNIGYAWIVIFQVITL>E<GWVEIMYYVMDAHSF-YNFIYFILLIIVGS386
CACNA1SRGGWPGPNHGITHFDNFGFSMLTVYQCITM>E<GWTDVLYWVNDAIGNEWPWIYFVTLILLGS322
SCN10ALKTSDNPDFNYTSFDSFAWAFLSLFRLMTQ>D<SWERLYQQTLRTSGKIY-MIFFVLVIFLGS385
SCN11AKHTKINPDYNYTNFDNFGWSFLAMFRLMTQ>D<SWEKLYQQTLRTTGLYS-VFFFIVVIFLGS388
SCN1AVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQ>D<FWENLYQLTLRAAGKTY-MIFFVLVIFLGS411
SCN2AVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQ>D<FWENLYQLTLRAAGKTY-MIFFVLVIFLGS413
SCN3AVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQ>D<YWENLYQLTLRAAGKTY-MIFFVLVIFLGS412
SCN4AIKTGRNPNYGYTSYDTFSWAFLALFRLMTQ>D<YWENLFQLTLRAAGKTY-MIFFVVIIFLGS435
SCN5ALKAGENPDHGYTSFDSFAWAFLALFRLMTQ>D<CWERLYQQTLRSAGKIY-MIFFMLVIFLGS401
SCN7AVKAGINPDQGFTNFDSFGWALFALFRLMAQ>D<YPEVLYHQILYASGKVY-MIFFVVVSFLFS382
SCN8AMKAGRNPNYGYTSFDTFSWAFLALFRLMTQ>D<YWENLYQLTLRAAGKTY-MIFFVLVIFVGS399
SCN9AVKIGRNPDYGYTSFDTFSWAFLALFRLMTQ>D<YWENLYQQTLRAAGKTY-MIFFVVVIFLGS390
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 363 for CACNA1C.