Paralogue Annotation for CACNA1C residue 392

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 392
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 392

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FG359RNightblindness-associated transient tonic downgazeHigh9 20001510, 23714322
SCN5AG400AVentricular fibrillation during acute myocardial iHigh9 17675083

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.



CACNA1CMEGWTDVLYWVNDAVGRDWPWIYFVTLIII>G<SFFVLNLVLGVLSGEFSKEREKAKARGDFQ422
CACNA1AMEGWTDLLYNSNDASGNTWNWLYFIPLIII>G<SFFMLNLVLGVLSGEFAKERERVENRRAFL377
CACNA1BMEGWTDILYNTNDAAGNTWNWLYFIPLIII>G<SFFMLNLVLGVLSGEFAKERERVENRRAFL373
CACNA1DMEGWTDVLYWVNDAIGWEWPWVYFVSLIIL>G<SFFVLNLVLGVLSGEFSKEREKAKARGDFQ423
CACNA1EMEGWTTVLYNTNDALGATWNWLYFIPLIII>G<SFFVLNLVLGVLSGEFAKERERVENRRAFM368
CACNA1FMEGWTDVLYWMQDAMGYELPWVYFVSLVIF>G<SFFVLNLVLGVLSGEFSKEREKAKARGDFQ389
CACNA1GLEGWVDIMYFVMDAHSF-YNFIYFILLIIV>G<SFFMINLCLVVIATQFSETKQRESQLMREQ412
CACNA1HLEGWVDIMYYVMDAHSF-YNFIYFILLIIV>G<SFFMINLCLVVIATQFSETKQRESQLMREQ436
CACNA1ILEGWVEIMYYVMDAHSF-YNFIYFILLIIV>G<SFFMINLCLVVIATQFSETKQREHRLMLEQ415
CACNA1SMEGWTDVLYWVNDAIGNEWPWIYFVTLILL>G<SFFILNLVLGVLSGEFTKEREKAKSRGTFQ351
SCN10AQDSWERLYQQTLRTSGKIY-MIFFVLVIFL>G<SFYLVNLILAVVTMAYEEQNQATTDEIEAK414
SCN11AQDSWEKLYQQTLRTTGLYS-VFFFIVVIFL>G<SFYLINLTLAVVTMAYEEQNKNVAAEIEAK417
SCN1AQDFWENLYQLTLRAAGKTY-MIFFVLVIFL>G<SFYLINLILAVVAMAYEEQNQATLEEAEQK440
SCN2AQDFWENLYQLTLRAAGKTY-MIFFVLVIFL>G<SFYLINLILAVVAMAYEEQNQATLEEAEQK442
SCN3AQDYWENLYQLTLRAAGKTY-MIFFVLVIFL>G<SFYLVNLILAVVAMAYEEQNQATLEEAEQK441
SCN4AQDYWENLFQLTLRAAGKTY-MIFFVVIIFL>G<SFYLINLILAVVAMAYAEQNEATLAEDKEK464
SCN5AQDCWERLYQQTLRSAGKIY-MIFFMLVIFL>G<SFYLVNLILAVVAMAYEEQNQATIAETEEK430
SCN7AQDYPEVLYHQILYASGKVY-MIFFVVVSFL>F<SFYMASLFLGILAMAYEEEKQRVGEISKKI411
SCN8AQDYWENLYQLTLRAAGKTY-MIFFVLVIFV>G<SFYLVNLILAVVAMAYEEQNQATLEEAEQK428
SCN9AQDYWENLYQQTLRAAGKTY-MIFFVVVIFL>G<SFYLINLILAVVAMAYEEQNQANIEEAKQK419
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 392 for CACNA1C.