Paralogue Annotation for CACNA1C residue 365

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 365
Reference Amino Acid: W - Tryptophan
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 365

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AW374GBrugada syndromeHigh9 20129283, 24136861
SCN1AW384RDravet syndrome C ?High9 21248271, 23195492
SCN1AW384XMyoclonic epilepsy of infancyHigh9 17347258, 25525159

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.



CACNA1CGWDGPKHGITNFDNFAFAMLTVFQCITMEG>W<TDVLYWVNDAVGRDWPWIYFVTLIIIGSFF395
CACNA1AYWEGPNNGITQFDNILFAVLTVFQCITMEG>W<TDLLYNSNDASGNTWNWLYFIPLIIIGSFF350
CACNA1BYWPGPNFGITNFDNILFAILTVFQCITMEG>W<TDILYNTNDAAGNTWNWLYFIPLIIIGSFF346
CACNA1DGWVGPNGGITNFDNFAFAMLTVFQCITMEG>W<TDVLYWVNDAIGWEWPWVYFVSLIILGSFF396
CACNA1EDWIGPNDGITQFDNILFAVLTVFQCITMEG>W<TTVLYNTNDALGATWNWLYFIPLIIIGSFF341
CACNA1FRWPGPNGGITNFDNFFFAMLTVFQCVTMEG>W<TDVLYWMQDAMGYELPWVYFVSLVIFGSFF362
CACNA1GGEHNPFKGAINFDNIGYAWIAIFQVITLEG>W<VDIMYFVMDAHSF-YNFIYFILLIIVGSFF385
CACNA1HGDSNPHNGAINFDNIGYAWIAIFQVITLEG>W<VDIMYYVMDAHSF-YNFIYFILLIIVGSFF409
CACNA1IGSANPHKGAINFDNIGYAWIVIFQVITLEG>W<VEIMYYVMDAHSF-YNFIYFILLIIVGSFF388
CACNA1SGWPGPNHGITHFDNFGFSMLTVYQCITMEG>W<TDVLYWVNDAIGNEWPWIYFVTLILLGSFF324
SCN10ATSDNPDFNYTSFDSFAWAFLSLFRLMTQDS>W<ERLYQQTLRTSGKIY-MIFFVLVIFLGSFY387
SCN11ATKINPDYNYTNFDNFGWSFLAMFRLMTQDS>W<EKLYQQTLRTTGLYS-VFFFIVVIFLGSFY390
SCN1AAGRNPNYGYTSFDTFSWAFLSLFRLMTQDF>W<ENLYQLTLRAAGKTY-MIFFVLVIFLGSFY413
SCN2AAGRNPNYGYTSFDTFSWAFLSLFRLMTQDF>W<ENLYQLTLRAAGKTY-MIFFVLVIFLGSFY415
SCN3AAGRNPNYGYTSFDTFSWAFLSLFRLMTQDY>W<ENLYQLTLRAAGKTY-MIFFVLVIFLGSFY414
SCN4ATGRNPNYGYTSYDTFSWAFLALFRLMTQDY>W<ENLFQLTLRAAGKTY-MIFFVVIIFLGSFY437
SCN5AAGENPDHGYTSFDSFAWAFLALFRLMTQDC>W<ERLYQQTLRSAGKIY-MIFFMLVIFLGSFY403
SCN7AAGINPDQGFTNFDSFGWALFALFRLMAQDY>P<EVLYHQILYASGKVY-MIFFVVVSFLFSFY384
SCN8AAGRNPNYGYTSFDTFSWAFLALFRLMTQDY>W<ENLYQLTLRAAGKTY-MIFFVLVIFVGSFY401
SCN9AIGRNPDYGYTSFDTFSWAFLALFRLMTQDY>W<ENLYQQTLRAAGKTY-MIFFVVVIFLGSFY392
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 365 for CACNA1C.