Paralogue Annotation for CACNA1C residue 1470

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1470
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1470

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AM1766LLong QT syndromeMedium9 12123767
SCN1AM1780TMyoclonic epilepsy of infancyMedium9 12821740
SCN4AM1592VHyperkalaemic periodic paralysisMedium9 1659668, 19290024, 21404612, 21665479, 23801527, 18046642, 24943082, 24714718
SCN5AM1766VLong QT syndromeMedium9 23174487
SCN5AM1766TBrugada syndromeMedium9 24721456
SCN2AM1770LEpileptic encephalopathy, neonatalMedium9 26795593

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.



CACNA1CGETP--CGS-SFAVFYFISFYMLCAFLIIN>L<FVAVIMDNFDYLTRDWSI-LGPHHLDEFKR1499
CACNA1AT-R--ECGN-EFAYFYFVSFIFLCSFLMLN>L<FVAVIMDNFEYLTRDSSI-LGPHHLDEYVR1834
CACNA1BA-NATECGS-DFAYFYFVSFIFLCSFLMLN>L<FVAVIMDNFEYLTRDSSI-LGPHHLDEFIR1732
CACNA1D-EYT--CGS-NFAIVYFISFYMLCAFLIIN>L<FVAVIMDNFDYLTRDWSI-LGPHHLDEFKR1507
CACNA1EN-E--RCGT-DLAYVYFVSFIFFCSFLMLN>L<FVAVIMDNFEYLTRDSSI-LGPHHLDEFVR1746
CACNA1F-EFT--CGS-NFAIAYFISFFMLCAFLIIN>L<FVAVIMDNFDYLTRDWSI-LGPHHLDEFKR1464
CACNA1G------YNT-VISPIYFVSFVLTAQFVLVN>V<VIAVLMKHLEESNKEAKE---EAELEAELE1872
CACNA1H--LS--YLP-ALSPVYFVTFVLVAQFVLVN>V<VVAVLMKHLEESNKEARE---DAELDAEIE1881
CACNA1I--LS--SLQ-FVSPLYFVSFVLTAQFVLIN>V<VVAVLMKHLDDSNKEAQE---DAEMDAELE1751
CACNA1S-EYT--CGT-NFAYYYFISFYMLCAFLVIN>L<FVAVIMDNFDYLTRDWSI-LGPHHLDEFKA1404
SCN10ARGD---CGSPAVGIIFFTTYIIISFLIMVN>M<YIAVILENFNVATEESTEPLSEDDFDMFYE1746
SCN11ASEN---CHLPGIATSYFVSYIIISFLIVVN>M<YIAVILENFNTATEESEDPLGEDDFDIFYE1628
SCN1AKGD---CGNPSVGIFFFVSYIIISFLVVVN>M<YIAVILENFSVATEESAEPLSEDDFEMFYE1810
SCN2AKGD---CGNPSVGIFFFVSYIIISFLVVVN>M<YIAVILENFSVATEESAEPLSEDDFEMFYE1800
SCN3AKGD---CGNPSVGIFFFVSYIIISFLVVVN>M<YIAVILENFSVATEESAEPLSEDDFEMFYE1795
SCN4AKGD---CGNPSIGICFFCSYIIISFLIVVN>M<YIAIILENFNVATEESSEPLGEDDFEMFYE1622
SCN5ARGD---CGSPAVGILFFTTYIIISFLIVVN>M<YIAIILENFSVATEESTEPLSEDDFDMFYE1796
SCN7ARGD---CGNPSVGIFYFVSYILISWLIIVN>M<YIVVVMEFLNIASKKKNKTLSEDDFRKFFQ1520
SCN8AKGD---CGNPSVGIFFFVSYIIISFLIVVN>M<YIAIILENFSVATEESADPLSEDDFETFYE1790
SCN9AEGD---CGNPSVGIFYFVSYIIISFLVVVN>M<YIAVILENFSVATEESTEPLSEDDFEMFYE1773
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1470 for CACNA1C.