Paralogue Annotation for CACNA1C residue 1467

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1467
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1467

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1763MLong QT syndromeMedium9 15485686, 23998552
SCN4AV1589MMyotoniaMedium9 8242056, 25755818
SCN9AV1740LParoxysmal extreme pain disorderMedium9 25903274

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.



CACNA1CSTEGETP--CGS-SFAVFYFISFYMLCAFL>I<INLFVAVIMDNFDYLTRDWSI-LGPHHLDE1496
CACNA1A---T-R--ECGN-EFAYFYFVSFIFLCSFL>M<LNLFVAVIMDNFEYLTRDSSI-LGPHHLDE1831
CACNA1B---A-NATECGS-DFAYFYFVSFIFLCSFL>M<LNLFVAVIMDNFEYLTRDSSI-LGPHHLDE1729
CACNA1DPGE-EYT--CGS-NFAIVYFISFYMLCAFL>I<INLFVAVIMDNFDYLTRDWSI-LGPHHLDE1504
CACNA1EQNEN-E--RCGT-DLAYVYFVSFIFFCSFL>M<LNLFVAVIMDNFEYLTRDSSI-LGPHHLDE1743
CACNA1FPGE-EFT--CGS-NFAIAYFISFFMLCAFL>I<INLFVAVIMDNFDYLTRDWSI-LGPHHLDE1461
CACNA1G-C-------YNT-VISPIYFVSFVLTAQFV>L<VNVVIAVLMKHLEESNKEAKE---EAELEA1869
CACNA1H-C---LS--YLP-ALSPVYFVTFVLVAQFV>L<VNVVVAVLMKHLEESNKEARE---DAELDA1878
CACNA1I-C---LS--SLQ-FVSPLYFVSFVLTAQFV>L<INVVVAVLMKHLDDSNKEAQE---DAEMDA1748
CACNA1SPGE-EYT--CGT-NFAYYYFISFYMLCAFL>V<INLFVAVIMDNFDYLTRDWSI-LGPHHLDE1401
SCN10ANGTRGD---CGSPAVGIIFFTTYIIISFLI>M<VNMYIAVILENFNVATEESTEPLSEDDFDM1743
SCN11A-SSSEN---CHLPGIATSYFVSYIIISFLI>V<VNMYIAVILENFNTATEESEDPLGEDDFDI1625
SCN1ASSVKGD---CGNPSVGIFFFVSYIIISFLV>V<VNMYIAVILENFSVATEESAEPLSEDDFEM1807
SCN2ASSVKGD---CGNPSVGIFFFVSYIIISFLV>V<VNMYIAVILENFSVATEESAEPLSEDDFEM1797
SCN3ASSVKGD---CGNPSVGIFFFVSYIIISFLV>V<VNMYIAVILENFSVATEESAEPLSEDDFEM1792
SCN4ATSVKGD---CGNPSIGICFFCSYIIISFLI>V<VNMYIAIILENFNVATEESSEPLGEDDFEM1619
SCN5ANGSRGD---CGSPAVGILFFTTYIIISFLI>V<VNMYIAIILENFSVATEESTEPLSEDDFDM1793
SCN7ATQVRGD---CGNPSVGIFYFVSYILISWLI>I<VNMYIVVVMEFLNIASKKKNKTLSEDDFRK1517
SCN8ASGFKGD---CGNPSVGIFFFVSYIIISFLI>V<VNMYIAIILENFSVATEESADPLSEDDFET1787
SCN9ASSVEGD---CGNPSVGIFYFVSYIIISFLV>V<VNMYIAVILENFSVATEESTEPLSEDDFEM1770
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1467 for CACNA1C.