Paralogue Annotation for CACNA1C residue 425

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 425
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 425

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN11AK419NPainful peripheral neuropathyMedium4 24776970

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.



CACNA1CFVLNLVLGVLSGEFSKEREKAKARGDFQKL>R<EKQQLEEDLKG------------YLDWITQ443
CACNA1AFMLNLVLGVLSGEFAKERERVENRRAFLKL>R<RQQQIERELNG------------YMEWISK398
CACNA1BFMLNLVLGVLSGEFAKERERVENRRAFLKL>R<RQQQIERELNG------------YLEWIFK394
CACNA1DFVLNLVLGVLSGEFSKEREKAKARGDFQKL>R<EKQQLEEDLKG------------YLDWITQ444
CACNA1EFVLNLVLGVLSGEFAKERERVENRRAFMKL>R<RQQQIERELNG------------YRAWIDK389
CACNA1FFVLNLVLGVLSGEFSKEREKAKARGDFQKQ>R<EKQQMEEDLRG------------YLDWITQ410
CACNA1GFMINLCLVVIATQFSETKQRESQLMREQRV>R<FLSNASTLASFSEPGSCYEELLKYLVYILR445
CACNA1HFMINLCLVVIATQFSETKQRESQLMREQRA>R<HLSNDSTLASFSEPGSCYEELLKYVGHIFR469
CACNA1IFMINLCLVVIATQFSETKQREHRLMLEQRQ>R<YLS-SSTVASYAEPGDCYEEIFQYVCHILR447
CACNA1SFILNLVLGVLSGEFTKEREKAKSRGTFQKL>R<EKQQLDEDLRG------------YMSWITQ372
SCN10AYLVNLILAVVTMAYEEQNQATTDEIEAK-E>K<KFQEALEMLRK------------EQEVLAA434
SCN11AYLINLTLAVVTMAYEEQNKNVAAEIEAK-E>K<MFQEAQQLLKE------------EKEALVA437
SCN1AYLINLILAVVAMAYEEQNQATLEEAEQK-E>A<EFQQMIEQLKK------------QQEAAQQ460
SCN2AYLINLILAVVAMAYEEQNQATLEEAEQK-E>A<EFQQMLEQLKK------------QQEEAQA462
SCN3AYLVNLILAVVAMAYEEQNQATLEEAEQK-E>A<EFQQMLEQLKK------------QQEEAQA461
SCN4AYLINLILAVVAMAYAEQNEATLAEDKEK-E>E<EFQQMLEKFKK------------HQEELEK484
SCN5AYLVNLILAVVAMAYEEQNQATIAETEEK-E>K<RFQEAMEMLKK------------EHEALTI450
SCN7AYMASLFLGILAMAYEEEKQRVGEISKKI-E>P<KFQQTGKELQE------------GNETDEA431
SCN8AYLVNLILAVVAMAYEEQNQATLEEAEQK-E>A<EFKAMLEQLKK------------QQEEAQA448
SCN9AYLINLILAVVAMAYEEQNQANIEEAKQK-E>L<EFQQMLDRLKK------------EQEEAEA439
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 425 for CACNA1C.