Paralogue Annotation for CACNA1C residue 376

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 376
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 376

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA395PCryptogenic generalised epilepsyMedium8 17347258

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.



CACNA1CFDNFAFAMLTVFQCITMEGWTDVLYWVNDA>V<GRDWPWIYFVTLIIIGSFFVLNLVLGVLSG406
CACNA1AFDNILFAVLTVFQCITMEGWTDLLYNSNDA>S<GNTWNWLYFIPLIIIGSFFMLNLVLGVLSG361
CACNA1BFDNILFAILTVFQCITMEGWTDILYNTNDA>A<GNTWNWLYFIPLIIIGSFFMLNLVLGVLSG357
CACNA1DFDNFAFAMLTVFQCITMEGWTDVLYWVNDA>I<GWEWPWVYFVSLIILGSFFVLNLVLGVLSG407
CACNA1EFDNILFAVLTVFQCITMEGWTTVLYNTNDA>L<GATWNWLYFIPLIIIGSFFVLNLVLGVLSG352
CACNA1FFDNFFFAMLTVFQCVTMEGWTDVLYWMQDA>M<GYELPWVYFVSLVIFGSFFVLNLVLGVLSG373
CACNA1GFDNIGYAWIAIFQVITLEGWVDIMYFVMDA>H<SF-YNFIYFILLIIVGSFFMINLCLVVIAT396
CACNA1HFDNIGYAWIAIFQVITLEGWVDIMYYVMDA>H<SF-YNFIYFILLIIVGSFFMINLCLVVIAT420
CACNA1IFDNIGYAWIVIFQVITLEGWVEIMYYVMDA>H<SF-YNFIYFILLIIVGSFFMINLCLVVIAT399
CACNA1SFDNFGFSMLTVYQCITMEGWTDVLYWVNDA>I<GNEWPWIYFVTLILLGSFFILNLVLGVLSG335
SCN10AFDSFAWAFLSLFRLMTQDSWERLYQQTLRT>S<GKIY-MIFFVLVIFLGSFYLVNLILAVVTM398
SCN11AFDNFGWSFLAMFRLMTQDSWEKLYQQTLRT>T<GLYS-VFFFIVVIFLGSFYLINLTLAVVTM401
SCN1AFDTFSWAFLSLFRLMTQDFWENLYQLTLRA>A<GKTY-MIFFVLVIFLGSFYLINLILAVVAM424
SCN2AFDTFSWAFLSLFRLMTQDFWENLYQLTLRA>A<GKTY-MIFFVLVIFLGSFYLINLILAVVAM426
SCN3AFDTFSWAFLSLFRLMTQDYWENLYQLTLRA>A<GKTY-MIFFVLVIFLGSFYLVNLILAVVAM425
SCN4AYDTFSWAFLALFRLMTQDYWENLFQLTLRA>A<GKTY-MIFFVVIIFLGSFYLINLILAVVAM448
SCN5AFDSFAWAFLALFRLMTQDCWERLYQQTLRS>A<GKIY-MIFFMLVIFLGSFYLVNLILAVVAM414
SCN7AFDSFGWALFALFRLMAQDYPEVLYHQILYA>S<GKVY-MIFFVVVSFLFSFYMASLFLGILAM395
SCN8AFDTFSWAFLALFRLMTQDYWENLYQLTLRA>A<GKTY-MIFFVLVIFVGSFYLVNLILAVVAM412
SCN9AFDTFSWAFLALFRLMTQDYWENLYQQTLRA>A<GKTY-MIFFVVVIFLGSFYLINLILAVVAM403
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V376Ic.1126G>A Putative BenignSIFT: tolerated
Polyphen: benign