Paralogue Annotation for CACNA1C residue 420

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 420
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 420

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AE428KAtrial fibrillationMedium4 18378609, 24055113, 24784157, 25637381

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.



CACNA1CIIGSFFVLNLVLGVLSGEFSKEREKAKARG>D<FQKLREKQQLEEDLKG------------YL438
CACNA1AIIGSFFMLNLVLGVLSGEFAKERERVENRR>A<FLKLRRQQQIERELNG------------YM393
CACNA1BIIGSFFMLNLVLGVLSGEFAKERERVENRR>A<FLKLRRQQQIERELNG------------YL389
CACNA1DILGSFFVLNLVLGVLSGEFSKEREKAKARG>D<FQKLREKQQLEEDLKG------------YL439
CACNA1EIIGSFFVLNLVLGVLSGEFAKERERVENRR>A<FMKLRRQQQIERELNG------------YR384
CACNA1FIFGSFFVLNLVLGVLSGEFSKEREKAKARG>D<FQKQREKQQMEEDLRG------------YL405
CACNA1GIVGSFFMINLCLVVIATQFSETKQRESQLM>R<EQRVRFLSNASTLASFSEPGSCYEELLKYL440
CACNA1HIVGSFFMINLCLVVIATQFSETKQRESQLM>R<EQRARHLSNDSTLASFSEPGSCYEELLKYV464
CACNA1IIVGSFFMINLCLVVIATQFSETKQREHRLM>L<EQRQRYLS-SSTVASYAEPGDCYEEIFQYV442
CACNA1SLLGSFFILNLVLGVLSGEFTKEREKAKSRG>T<FQKLREKQQLDEDLRG------------YM367
SCN10AFLGSFYLVNLILAVVTMAYEEQNQATTDEI>E<AK-EKKFQEALEMLRK------------EQ429
SCN11AFLGSFYLINLTLAVVTMAYEEQNKNVAAEI>E<AK-EKMFQEAQQLLKE------------EK432
SCN1AFLGSFYLINLILAVVAMAYEEQNQATLEEA>E<QK-EAEFQQMIEQLKK------------QQ455
SCN2AFLGSFYLINLILAVVAMAYEEQNQATLEEA>E<QK-EAEFQQMLEQLKK------------QQ457
SCN3AFLGSFYLVNLILAVVAMAYEEQNQATLEEA>E<QK-EAEFQQMLEQLKK------------QQ456
SCN4AFLGSFYLINLILAVVAMAYAEQNEATLAED>K<EK-EEEFQQMLEKFKK------------HQ479
SCN5AFLGSFYLVNLILAVVAMAYEEQNQATIAET>E<EK-EKRFQEAMEMLKK------------EH445
SCN7AFLFSFYMASLFLGILAMAYEEEKQRVGEIS>K<KI-EPKFQQTGKELQE------------GN426
SCN8AFVGSFYLVNLILAVVAMAYEEQNQATLEEA>E<QK-EAEFKAMLEQLKK------------QQ443
SCN9AFLGSFYLINLILAVVAMAYEEQNQANIEEA>K<QK-ELEFQQMLDRLKK------------EQ434
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 420 for CACNA1C.