Paralogue Annotation for CACNA1C residue 366

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 366
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 366

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE385GDravet syndromeMedium9 22071555
SCN1AE385VDravet syndromeMedium9 26169758

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.



CACNA1CWDGPKHGITNFDNFAFAMLTVFQCITMEGW>T<DVLYWVNDAVGRDWPWIYFVTLIIIGSFFV396
CACNA1AWEGPNNGITQFDNILFAVLTVFQCITMEGW>T<DLLYNSNDASGNTWNWLYFIPLIIIGSFFM351
CACNA1BWPGPNFGITNFDNILFAILTVFQCITMEGW>T<DILYNTNDAAGNTWNWLYFIPLIIIGSFFM347
CACNA1DWVGPNGGITNFDNFAFAMLTVFQCITMEGW>T<DVLYWVNDAIGWEWPWVYFVSLIILGSFFV397
CACNA1EWIGPNDGITQFDNILFAVLTVFQCITMEGW>T<TVLYNTNDALGATWNWLYFIPLIIIGSFFV342
CACNA1FWPGPNGGITNFDNFFFAMLTVFQCVTMEGW>T<DVLYWMQDAMGYELPWVYFVSLVIFGSFFV363
CACNA1GEHNPFKGAINFDNIGYAWIAIFQVITLEGW>V<DIMYFVMDAHSF-YNFIYFILLIIVGSFFM386
CACNA1HDSNPHNGAINFDNIGYAWIAIFQVITLEGW>V<DIMYYVMDAHSF-YNFIYFILLIIVGSFFM410
CACNA1ISANPHKGAINFDNIGYAWIVIFQVITLEGW>V<EIMYYVMDAHSF-YNFIYFILLIIVGSFFM389
CACNA1SWPGPNHGITHFDNFGFSMLTVYQCITMEGW>T<DVLYWVNDAIGNEWPWIYFVTLILLGSFFI325
SCN10ASDNPDFNYTSFDSFAWAFLSLFRLMTQDSW>E<RLYQQTLRTSGKIY-MIFFVLVIFLGSFYL388
SCN11AKINPDYNYTNFDNFGWSFLAMFRLMTQDSW>E<KLYQQTLRTTGLYS-VFFFIVVIFLGSFYL391
SCN1AGRNPNYGYTSFDTFSWAFLSLFRLMTQDFW>E<NLYQLTLRAAGKTY-MIFFVLVIFLGSFYL414
SCN2AGRNPNYGYTSFDTFSWAFLSLFRLMTQDFW>E<NLYQLTLRAAGKTY-MIFFVLVIFLGSFYL416
SCN3AGRNPNYGYTSFDTFSWAFLSLFRLMTQDYW>E<NLYQLTLRAAGKTY-MIFFVLVIFLGSFYL415
SCN4AGRNPNYGYTSYDTFSWAFLALFRLMTQDYW>E<NLFQLTLRAAGKTY-MIFFVVIIFLGSFYL438
SCN5AGENPDHGYTSFDSFAWAFLALFRLMTQDCW>E<RLYQQTLRSAGKIY-MIFFMLVIFLGSFYL404
SCN7AGINPDQGFTNFDSFGWALFALFRLMAQDYP>E<VLYHQILYASGKVY-MIFFVVVSFLFSFYM385
SCN8AGRNPNYGYTSFDTFSWAFLALFRLMTQDYW>E<NLYQLTLRAAGKTY-MIFFVLVIFVGSFYL402
SCN9AGRNPDYGYTSFDTFSWAFLALFRLMTQDYW>E<NLYQQTLRAAGKTY-MIFFVVVIFLGSFYL393
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 366 for CACNA1C.