Paralogue Annotation for CACNA1C residue 369

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 369
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 369

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY388HGeneralized epilepsy with febrile seizures plusMedium8 19464195

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.



CACNA1CPKHGITNFDNFAFAMLTVFQCITMEGWTDV>L<YWVNDAVGRDWPWIYFVTLIIIGSFFVLNL399
CACNA1APNNGITQFDNILFAVLTVFQCITMEGWTDL>L<YNSNDASGNTWNWLYFIPLIIIGSFFMLNL354
CACNA1BPNFGITNFDNILFAILTVFQCITMEGWTDI>L<YNTNDAAGNTWNWLYFIPLIIIGSFFMLNL350
CACNA1DPNGGITNFDNFAFAMLTVFQCITMEGWTDV>L<YWVNDAIGWEWPWVYFVSLIILGSFFVLNL400
CACNA1EPNDGITQFDNILFAVLTVFQCITMEGWTTV>L<YNTNDALGATWNWLYFIPLIIIGSFFVLNL345
CACNA1FPNGGITNFDNFFFAMLTVFQCVTMEGWTDV>L<YWMQDAMGYELPWVYFVSLVIFGSFFVLNL366
CACNA1GPFKGAINFDNIGYAWIAIFQVITLEGWVDI>M<YFVMDAHSF-YNFIYFILLIIVGSFFMINL389
CACNA1HPHNGAINFDNIGYAWIAIFQVITLEGWVDI>M<YYVMDAHSF-YNFIYFILLIIVGSFFMINL413
CACNA1IPHKGAINFDNIGYAWIVIFQVITLEGWVEI>M<YYVMDAHSF-YNFIYFILLIIVGSFFMINL392
CACNA1SPNHGITHFDNFGFSMLTVYQCITMEGWTDV>L<YWVNDAIGNEWPWIYFVTLILLGSFFILNL328
SCN10APDFNYTSFDSFAWAFLSLFRLMTQDSWERL>Y<QQTLRTSGKIY-MIFFVLVIFLGSFYLVNL391
SCN11APDYNYTNFDNFGWSFLAMFRLMTQDSWEKL>Y<QQTLRTTGLYS-VFFFIVVIFLGSFYLINL394
SCN1APNYGYTSFDTFSWAFLSLFRLMTQDFWENL>Y<QLTLRAAGKTY-MIFFVLVIFLGSFYLINL417
SCN2APNYGYTSFDTFSWAFLSLFRLMTQDFWENL>Y<QLTLRAAGKTY-MIFFVLVIFLGSFYLINL419
SCN3APNYGYTSFDTFSWAFLSLFRLMTQDYWENL>Y<QLTLRAAGKTY-MIFFVLVIFLGSFYLVNL418
SCN4APNYGYTSYDTFSWAFLALFRLMTQDYWENL>F<QLTLRAAGKTY-MIFFVVIIFLGSFYLINL441
SCN5APDHGYTSFDSFAWAFLALFRLMTQDCWERL>Y<QQTLRSAGKIY-MIFFMLVIFLGSFYLVNL407
SCN7APDQGFTNFDSFGWALFALFRLMAQDYPEVL>Y<HQILYASGKVY-MIFFVVVSFLFSFYMASL388
SCN8APNYGYTSFDTFSWAFLALFRLMTQDYWENL>Y<QLTLRAAGKTY-MIFFVLVIFVGSFYLVNL405
SCN9APDYGYTSFDTFSWAFLALFRLMTQDYWENL>Y<QQTLRAAGKTY-MIFFVVVIFLGSFYLINL396
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 369 for CACNA1C.