Paralogue Annotation for CACNA1C residue 386

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 386
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 386

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN11AI381TPainful peripheral neuropathyMedium9 24776970, 24776970

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.



CACNA1CVFQCITMEGWTDVLYWVNDAVGRDWPWIYF>V<TLIIIGSFFVLNLVLGVLSGEFSKEREKAK416
CACNA1AVFQCITMEGWTDLLYNSNDASGNTWNWLYF>I<PLIIIGSFFMLNLVLGVLSGEFAKERERVE371
CACNA1BVFQCITMEGWTDILYNTNDAAGNTWNWLYF>I<PLIIIGSFFMLNLVLGVLSGEFAKERERVE367
CACNA1DVFQCITMEGWTDVLYWVNDAIGWEWPWVYF>V<SLIILGSFFVLNLVLGVLSGEFSKEREKAK417
CACNA1EVFQCITMEGWTTVLYNTNDALGATWNWLYF>I<PLIIIGSFFVLNLVLGVLSGEFAKERERVE362
CACNA1FVFQCVTMEGWTDVLYWMQDAMGYELPWVYF>V<SLVIFGSFFVLNLVLGVLSGEFSKEREKAK383
CACNA1GIFQVITLEGWVDIMYFVMDAHSF-YNFIYF>I<LLIIVGSFFMINLCLVVIATQFSETKQRES406
CACNA1HIFQVITLEGWVDIMYYVMDAHSF-YNFIYF>I<LLIIVGSFFMINLCLVVIATQFSETKQRES430
CACNA1IIFQVITLEGWVEIMYYVMDAHSF-YNFIYF>I<LLIIVGSFFMINLCLVVIATQFSETKQREH409
CACNA1SVYQCITMEGWTDVLYWVNDAIGNEWPWIYF>V<TLILLGSFFILNLVLGVLSGEFTKEREKAK345
SCN10ALFRLMTQDSWERLYQQTLRTSGKIY-MIFF>V<LVIFLGSFYLVNLILAVVTMAYEEQNQATT408
SCN11AMFRLMTQDSWEKLYQQTLRTTGLYS-VFFF>I<VVIFLGSFYLINLTLAVVTMAYEEQNKNVA411
SCN1ALFRLMTQDFWENLYQLTLRAAGKTY-MIFF>V<LVIFLGSFYLINLILAVVAMAYEEQNQATL434
SCN2ALFRLMTQDFWENLYQLTLRAAGKTY-MIFF>V<LVIFLGSFYLINLILAVVAMAYEEQNQATL436
SCN3ALFRLMTQDYWENLYQLTLRAAGKTY-MIFF>V<LVIFLGSFYLVNLILAVVAMAYEEQNQATL435
SCN4ALFRLMTQDYWENLFQLTLRAAGKTY-MIFF>V<VIIFLGSFYLINLILAVVAMAYAEQNEATL458
SCN5ALFRLMTQDCWERLYQQTLRSAGKIY-MIFF>M<LVIFLGSFYLVNLILAVVAMAYEEQNQATI424
SCN7ALFRLMAQDYPEVLYHQILYASGKVY-MIFF>V<VVSFLFSFYMASLFLGILAMAYEEEKQRVG405
SCN8ALFRLMTQDYWENLYQLTLRAAGKTY-MIFF>V<LVIFVGSFYLVNLILAVVAMAYEEQNQATL422
SCN9ALFRLMTQDYWENLYQQTLRAAGKTY-MIFF>V<VVIFLGSFYLINLILAVVAMAYEEQNQANI413
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 386 for CACNA1C.