Paralogue Annotation for CACNA1C residue 401

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 401
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 401

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL409VLong QT syndromeHigh9 19716085
SCN5AL409PLong QT syndromeHigh9 22064211
SCN8AL407FIntellectual disability and epilepsyHigh9 25785782

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.



CACNA1CWVNDAVGRDWPWIYFVTLIIIGSFFVLNLV>L<GVLSGEFSKEREKAKARGDFQKLREKQQLE431
CACNA1ANSNDASGNTWNWLYFIPLIIIGSFFMLNLV>L<GVLSGEFAKERERVENRRAFLKLRRQQQIE386
CACNA1BNTNDAAGNTWNWLYFIPLIIIGSFFMLNLV>L<GVLSGEFAKERERVENRRAFLKLRRQQQIE382
CACNA1DWVNDAIGWEWPWVYFVSLIILGSFFVLNLV>L<GVLSGEFSKEREKAKARGDFQKLREKQQLE432
CACNA1ENTNDALGATWNWLYFIPLIIIGSFFVLNLV>L<GVLSGEFAKERERVENRRAFMKLRRQQQIE377
CACNA1FWMQDAMGYELPWVYFVSLVIFGSFFVLNLV>L<GVLSGEFSKEREKAKARGDFQKQREKQQME398
CACNA1GFVMDAHSF-YNFIYFILLIIVGSFFMINLC>L<VVIATQFSETKQRESQLMREQRVRFLSNAS421
CACNA1HYVMDAHSF-YNFIYFILLIIVGSFFMINLC>L<VVIATQFSETKQRESQLMREQRARHLSNDS445
CACNA1IYVMDAHSF-YNFIYFILLIIVGSFFMINLC>L<VVIATQFSETKQREHRLMLEQRQRYLS-SS423
CACNA1SWVNDAIGNEWPWIYFVTLILLGSFFILNLV>L<GVLSGEFTKEREKAKSRGTFQKLREKQQLD360
SCN10AQTLRTSGKIY-MIFFVLVIFLGSFYLVNLI>L<AVVTMAYEEQNQATTDEIEAK-EKKFQEAL422
SCN11AQTLRTTGLYS-VFFFIVVIFLGSFYLINLT>L<AVVTMAYEEQNKNVAAEIEAK-EKMFQEAQ425
SCN1ALTLRAAGKTY-MIFFVLVIFLGSFYLINLI>L<AVVAMAYEEQNQATLEEAEQK-EAEFQQMI448
SCN2ALTLRAAGKTY-MIFFVLVIFLGSFYLINLI>L<AVVAMAYEEQNQATLEEAEQK-EAEFQQML450
SCN3ALTLRAAGKTY-MIFFVLVIFLGSFYLVNLI>L<AVVAMAYEEQNQATLEEAEQK-EAEFQQML449
SCN4ALTLRAAGKTY-MIFFVVIIFLGSFYLINLI>L<AVVAMAYAEQNEATLAEDKEK-EEEFQQML472
SCN5AQTLRSAGKIY-MIFFMLVIFLGSFYLVNLI>L<AVVAMAYEEQNQATIAETEEK-EKRFQEAM438
SCN7AQILYASGKVY-MIFFVVVSFLFSFYMASLF>L<GILAMAYEEEKQRVGEISKKI-EPKFQQTG419
SCN8ALTLRAAGKTY-MIFFVLVIFVGSFYLVNLI>L<AVVAMAYEEQNQATLEEAEQK-EAEFKAML436
SCN9AQTLRAAGKTY-MIFFVVVIFLGSFYLINLI>L<AVVAMAYEEQNQANIEEAKQK-ELEFQQML427
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 401 for CACNA1C.