Paralogue Annotation for CACNA1C residue 382

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 382
Reference Amino Acid: W - Tryptophan
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 382

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM400VDravet syndrome C ?Medium9 21248271, 25795284
SCN1AM400KDravet syndromeMedium9 26096185

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.



CACNA1CAMLTVFQCITMEGWTDVLYWVNDAVGRDWP>W<IYFVTLIIIGSFFVLNLVLGVLSGEFSKER412
CACNA1AAVLTVFQCITMEGWTDLLYNSNDASGNTWN>W<LYFIPLIIIGSFFMLNLVLGVLSGEFAKER367
CACNA1BAILTVFQCITMEGWTDILYNTNDAAGNTWN>W<LYFIPLIIIGSFFMLNLVLGVLSGEFAKER363
CACNA1DAMLTVFQCITMEGWTDVLYWVNDAIGWEWP>W<VYFVSLIILGSFFVLNLVLGVLSGEFSKER413
CACNA1EAVLTVFQCITMEGWTTVLYNTNDALGATWN>W<LYFIPLIIIGSFFVLNLVLGVLSGEFAKER358
CACNA1FAMLTVFQCVTMEGWTDVLYWMQDAMGYELP>W<VYFVSLVIFGSFFVLNLVLGVLSGEFSKER379
CACNA1GAWIAIFQVITLEGWVDIMYFVMDAHSF-YN>F<IYFILLIIVGSFFMINLCLVVIATQFSETK402
CACNA1HAWIAIFQVITLEGWVDIMYYVMDAHSF-YN>F<IYFILLIIVGSFFMINLCLVVIATQFSETK426
CACNA1IAWIVIFQVITLEGWVEIMYYVMDAHSF-YN>F<IYFILLIIVGSFFMINLCLVVIATQFSETK405
CACNA1SSMLTVYQCITMEGWTDVLYWVNDAIGNEWP>W<IYFVTLILLGSFFILNLVLGVLSGEFTKER341
SCN10AAFLSLFRLMTQDSWERLYQQTLRTSGKIY->M<IFFVLVIFLGSFYLVNLILAVVTMAYEEQN404
SCN11ASFLAMFRLMTQDSWEKLYQQTLRTTGLYS->V<FFFIVVIFLGSFYLINLTLAVVTMAYEEQN407
SCN1AAFLSLFRLMTQDFWENLYQLTLRAAGKTY->M<IFFVLVIFLGSFYLINLILAVVAMAYEEQN430
SCN2AAFLSLFRLMTQDFWENLYQLTLRAAGKTY->M<IFFVLVIFLGSFYLINLILAVVAMAYEEQN432
SCN3AAFLSLFRLMTQDYWENLYQLTLRAAGKTY->M<IFFVLVIFLGSFYLVNLILAVVAMAYEEQN431
SCN4AAFLALFRLMTQDYWENLFQLTLRAAGKTY->M<IFFVVIIFLGSFYLINLILAVVAMAYAEQN454
SCN5AAFLALFRLMTQDCWERLYQQTLRSAGKIY->M<IFFMLVIFLGSFYLVNLILAVVAMAYEEQN420
SCN7AALFALFRLMAQDYPEVLYHQILYASGKVY->M<IFFVVVSFLFSFYMASLFLGILAMAYEEEK401
SCN8AAFLALFRLMTQDYWENLYQLTLRAAGKTY->M<IFFVLVIFVGSFYLVNLILAVVAMAYEEQN418
SCN9AAFLALFRLMTQDYWENLYQQTLRAAGKTY->M<IFFVVVIFLGSFYLINLILAVVAMAYEEQN409
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 382 for CACNA1C.