Paralogue Annotation for CACNA1C residue 1495

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1495
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1495

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AD1792NCardiac sinus node dysfunctionHigh8 22795782

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.



CACNA1CLIINLFVAVIMDNFDYLTRDWSI-LGPHHL>D<EFKRIWAEYDPEAKGRIKHLDVVTLLRRIQ1525
CACNA1ALMLNLFVAVIMDNFEYLTRDSSI-LGPHHL>D<EYVRVWAEYDPAACGRIHYKDMYSLLRVIS1860
CACNA1BLMLNLFVAVIMDNFEYLTRDSSI-LGPHHL>D<EFIRVWAEYDPAACGRISYNDMFEMLKHMS1758
CACNA1DLIINLFVAVIMDNFDYLTRDWSI-LGPHHL>D<EFKRIWSEYDPEAKGRIKHLDVVTLLRRIQ1533
CACNA1ELMLNLFVAVIMDNFEYLTRDSSI-LGPHHL>D<EFVRVWAEYDRAACGRIHYTEMYEMLTLMS1772
CACNA1FLIINLFVAVIMDNFDYLTRDWSI-LGPHHL>D<EFKRIWSEYDPGAKGRIKHLDVVALLRRIQ1490
CACNA1GVLVNVVIAVLMKHLEESNKEAKE---EAEL>E<AELELEMKT-LSPQPHSPLGSPF-LWPGVE1896
CACNA1HVLVNVVVAVLMKHLEESNKEARE---DAEL>D<AEIELEMAQGPGSARRVDADRP--------1899
CACNA1IVLINVVVAVLMKHLDDSNKEAQE---DAEM>D<AELELEMAHGLGPGPRLPTGSPGAPGR---1774
CACNA1SLVINLFVAVIMDNFDYLTRDWSI-LGPHHL>D<EFKAIWAEYDPEAKGRIKHLDVVTLLRRIQ1430
SCN10AIMVNMYIAVILENFNVATEESTEPLSEDDF>D<MFYETWEKFDPEATQFITFSALSDFADTLS1772
SCN11AIVVNMYIAVILENFNTATEESEDPLGEDDF>D<IFYEVWEKFDPEATQFIKYSALSDFADALP1654
SCN1AVVVNMYIAVILENFSVATEESAEPLSEDDF>E<MFYEVWEKFDPDATQFMEFEKLSQFAAALE1836
SCN2AVVVNMYIAVILENFSVATEESAEPLSEDDF>E<MFYEVWEKFDPDATQFIEFAKLSDFADALD1826
SCN3AVVVNMYIAVILENFSVATEESAEPLSEDDF>E<MFYEVWEKFDPDATQFIEFSKLSDFAAALD1821
SCN4AIVVNMYIAIILENFNVATEESSEPLGEDDF>E<MFYETWEKFDPDATQFIAYSRLSDFVDTLQ1648
SCN5AIVVNMYIAIILENFSVATEESTEPLSEDDF>D<MFYEIWEKFDPEATQFIEYSVLSDFADALS1822
SCN7AIIVNMYIVVVMEFLNIASKKKNKTLSEDDF>R<KFFQVWKRFDPDRTQYIDSSKLSDFAAALD1546
SCN8AIVVNMYIAIILENFSVATEESADPLSEDDF>E<TFYEIWEKFDPDATQFIEYCKLADFADALE1816
SCN9AVVVNMYIAVILENFSVATEESTEPLSEDDF>E<MFYEVWEKFDPDATQFIEFSKLSDFAAALD1799
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1495 for CACNA1C.