Paralogue Annotation for CACNA1C residue 403

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 403
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 403

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV411MLong QT syndromeHigh9 10961955, 21193062, 22721569
SCN4AV445MMyotoniaHigh9 9392583, 22653516, 25839108, 25724373
SCN9AV400MErythermalgia, carbamazepine-responsiveHigh9 19557861, 26920677

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.



CACNA1CNDAVGRDWPWIYFVTLIIIGSFFVLNLVLG>V<LSGEFSKEREKAKARGDFQKLREKQQLEED433
CACNA1ANDASGNTWNWLYFIPLIIIGSFFMLNLVLG>V<LSGEFAKERERVENRRAFLKLRRQQQIERE388
CACNA1BNDAAGNTWNWLYFIPLIIIGSFFMLNLVLG>V<LSGEFAKERERVENRRAFLKLRRQQQIERE384
CACNA1DNDAIGWEWPWVYFVSLIILGSFFVLNLVLG>V<LSGEFSKEREKAKARGDFQKLREKQQLEED434
CACNA1ENDALGATWNWLYFIPLIIIGSFFVLNLVLG>V<LSGEFAKERERVENRRAFMKLRRQQQIERE379
CACNA1FQDAMGYELPWVYFVSLVIFGSFFVLNLVLG>V<LSGEFSKEREKAKARGDFQKQREKQQMEED400
CACNA1GMDAHSF-YNFIYFILLIIVGSFFMINLCLV>V<IATQFSETKQRESQLMREQRVRFLSNASTL423
CACNA1HMDAHSF-YNFIYFILLIIVGSFFMINLCLV>V<IATQFSETKQRESQLMREQRARHLSNDSTL447
CACNA1IMDAHSF-YNFIYFILLIIVGSFFMINLCLV>V<IATQFSETKQREHRLMLEQRQRYLS-SSTV425
CACNA1SNDAIGNEWPWIYFVTLILLGSFFILNLVLG>V<LSGEFTKEREKAKSRGTFQKLREKQQLDED362
SCN10ALRTSGKIY-MIFFVLVIFLGSFYLVNLILA>V<VTMAYEEQNQATTDEIEAK-EKKFQEALEM424
SCN11ALRTTGLYS-VFFFIVVIFLGSFYLINLTLA>V<VTMAYEEQNKNVAAEIEAK-EKMFQEAQQL427
SCN1ALRAAGKTY-MIFFVLVIFLGSFYLINLILA>V<VAMAYEEQNQATLEEAEQK-EAEFQQMIEQ450
SCN2ALRAAGKTY-MIFFVLVIFLGSFYLINLILA>V<VAMAYEEQNQATLEEAEQK-EAEFQQMLEQ452
SCN3ALRAAGKTY-MIFFVLVIFLGSFYLVNLILA>V<VAMAYEEQNQATLEEAEQK-EAEFQQMLEQ451
SCN4ALRAAGKTY-MIFFVVIIFLGSFYLINLILA>V<VAMAYAEQNEATLAEDKEK-EEEFQQMLEK474
SCN5ALRSAGKIY-MIFFMLVIFLGSFYLVNLILA>V<VAMAYEEQNQATIAETEEK-EKRFQEAMEM440
SCN7ALYASGKVY-MIFFVVVSFLFSFYMASLFLG>I<LAMAYEEEKQRVGEISKKI-EPKFQQTGKE421
SCN8ALRAAGKTY-MIFFVLVIFVGSFYLVNLILA>V<VAMAYEEQNQATLEEAEQK-EAEFKAMLEQ438
SCN9ALRAAGKTY-MIFFVVVIFLGSFYLINLILA>V<VAMAYEEQNQANIEEAKQK-ELEFQQMLDR429
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 403 for CACNA1C.