Paralogue Annotation for CACNA1C residue 1428

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1428
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1428

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AT1723NLong QT syndromeMedium5 19716085

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.



CACNA1CNFQTFPQAVLLLFRCATGEAWQDIMLACMP>G<--KKCAPESEP-SNSTEGETP--CGS-SFA1452
CACNA1ANFRTFFQALMLLFRSATGEAWHNIMLSCLS>G<--KPCDKNSGIL-----T-R--ECGN-EFA1787
CACNA1BNFRTFLQALMLLFRSATGEAWHEIMLSCLS>N<--QACDE---Q------A-NATECGS-DFA1685
CACNA1DNFQTFPQAVLLLFRCATGEAWQEIMLACLP>G<--KLCDPESDY--NPGE-EYT--CGS-NFA1460
CACNA1ENFRSFFGSLMLLFRSATGEAWQEIMLSCLG>E<--KGCEPDTTAPSGQNEN-E--RCGT-DLA1699
CACNA1FNFQTFPQAVLLLFRCATGEAWQEIMLASLP>G<--NRCDPESDF--GPGE-EFT--CGS-NFA1417
CACNA1GTFRNFGMAFLTLFRVSTGDNWNGIMKDTLR>D<----CDQEST-----C-------YNT-VIS1827
CACNA1HTFSNFGMAFLTLFRVSTGDNWNGIMKDTLR>E<----CSREDKH----C---LS--YLP-ALS1836
CACNA1ITFENFGMAFLTLFQVSTGDNWNGIMKDTLR>D<----CTHDERS----C---LS--SLQ-FVS1706
CACNA1SNFQTFPQAVLLLFRCATGEAWQEILLACSY>G<--KLCDPESDY--APGE-EYT--CGT-NFA1357
SCN10ANFQTFANSMLCLFQITTSAGWDGLLSPILN>T<GPPYCDPNLPN-S-NGTRGD---CGSPAVG1698
SCN11ANFKTFASSMLCLFQISTSAGWDSLLSPMLR>S<KES-CN---------SSSEN---CHLPGIA1580
SCN1ANFETFGNSMICLFQITTSAGWDGLLAPILN>S<KPPDCDPNKVN-PGSSVKGD---CGNPSVG1762
SCN2ANFETFGNSMICLFQITTSAGWDGLLAPILN>S<GPPDCDPDKDH-PGSSVKGD---CGNPSVG1752
SCN3ANFETFGNSMICLFQITTSAGWDGLLAPILN>S<APPDCDPDTIH-PGSSVKGD---CGNPSVG1747
SCN4ANFETFGNSIICLFEITTSAGWDGLLNPILN>S<GPPDCDPNLEN-PGTSVKGD---CGNPSIG1574
SCN5ANFQTFANSMLCLFQITTSAGWDGLLSPILN>T<GPPYCDPTLPN-S-NGSRGD---CGSPAVG1748
SCN7ANFETFGNSMLCLFQVAIFAGWDGMLDAIFN>S<KWSDCDPDKIN-PGTQVRGD---CGNPSVG1472
SCN8ANFETFGNSMICLFQITTSAGWDGLLLPILN>-<RPPDCSLDKEH-PGSGFKGD---CGNPSVG1742
SCN9ANFETFGNSMICLFQITTSAGWDGLLAPILN>S<KPPDCDPKKVH-PGSSVEGD---CGNPSVG1725
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1428 for CACNA1C.