Paralogue Annotation for CACNA1C residue 396

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 396
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 396

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL404QLong QT syndromeMedium9 15840476
SCN10AL388PBrugada syndromeMedium9 24998131

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.



CACNA1CTDVLYWVNDAVGRDWPWIYFVTLIIIGSFF>V<LNLVLGVLSGEFSKEREKAKARGDFQKLRE426
CACNA1ATDLLYNSNDASGNTWNWLYFIPLIIIGSFF>M<LNLVLGVLSGEFAKERERVENRRAFLKLRR381
CACNA1BTDILYNTNDAAGNTWNWLYFIPLIIIGSFF>M<LNLVLGVLSGEFAKERERVENRRAFLKLRR377
CACNA1DTDVLYWVNDAIGWEWPWVYFVSLIILGSFF>V<LNLVLGVLSGEFSKEREKAKARGDFQKLRE427
CACNA1ETTVLYNTNDALGATWNWLYFIPLIIIGSFF>V<LNLVLGVLSGEFAKERERVENRRAFMKLRR372
CACNA1FTDVLYWMQDAMGYELPWVYFVSLVIFGSFF>V<LNLVLGVLSGEFSKEREKAKARGDFQKQRE393
CACNA1GVDIMYFVMDAHSF-YNFIYFILLIIVGSFF>M<INLCLVVIATQFSETKQRESQLMREQRVRF416
CACNA1HVDIMYYVMDAHSF-YNFIYFILLIIVGSFF>M<INLCLVVIATQFSETKQRESQLMREQRARH440
CACNA1IVEIMYYVMDAHSF-YNFIYFILLIIVGSFF>M<INLCLVVIATQFSETKQREHRLMLEQRQRY419
CACNA1STDVLYWVNDAIGNEWPWIYFVTLILLGSFF>I<LNLVLGVLSGEFTKEREKAKSRGTFQKLRE355
SCN10AERLYQQTLRTSGKIY-MIFFVLVIFLGSFY>L<VNLILAVVTMAYEEQNQATTDEIEAK-EKK417
SCN11AEKLYQQTLRTTGLYS-VFFFIVVIFLGSFY>L<INLTLAVVTMAYEEQNKNVAAEIEAK-EKM420
SCN1AENLYQLTLRAAGKTY-MIFFVLVIFLGSFY>L<INLILAVVAMAYEEQNQATLEEAEQK-EAE443
SCN2AENLYQLTLRAAGKTY-MIFFVLVIFLGSFY>L<INLILAVVAMAYEEQNQATLEEAEQK-EAE445
SCN3AENLYQLTLRAAGKTY-MIFFVLVIFLGSFY>L<VNLILAVVAMAYEEQNQATLEEAEQK-EAE444
SCN4AENLFQLTLRAAGKTY-MIFFVVIIFLGSFY>L<INLILAVVAMAYAEQNEATLAEDKEK-EEE467
SCN5AERLYQQTLRSAGKIY-MIFFMLVIFLGSFY>L<VNLILAVVAMAYEEQNQATIAETEEK-EKR433
SCN7AEVLYHQILYASGKVY-MIFFVVVSFLFSFY>M<ASLFLGILAMAYEEEKQRVGEISKKI-EPK414
SCN8AENLYQLTLRAAGKTY-MIFFVLVIFVGSFY>L<VNLILAVVAMAYEEQNQATLEEAEQK-EAE431
SCN9AENLYQQTLRAAGKTY-MIFFVVVIFLGSFY>L<INLILAVVAMAYEEQNQANIEEAKQK-ELE422
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V396Ic.1186G>A Putative BenignSIFT:
Polyphen: