Paralogue Annotation for CACNA1C residue 1489

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1489
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1489

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL1786QBrugada syndromeHigh9 16712702, 24599044

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.



CACNA1CYMLCAFLIINLFVAVIMDNFDYLTRDWSI->L<GPHHLDEFKRIWAEYDPEAKGRIKHLDVVT1519
CACNA1AIFLCSFLMLNLFVAVIMDNFEYLTRDSSI->L<GPHHLDEYVRVWAEYDPAACGRIHYKDMYS1854
CACNA1BIFLCSFLMLNLFVAVIMDNFEYLTRDSSI->L<GPHHLDEFIRVWAEYDPAACGRISYNDMFE1752
CACNA1DYMLCAFLIINLFVAVIMDNFDYLTRDWSI->L<GPHHLDEFKRIWSEYDPEAKGRIKHLDVVT1527
CACNA1EIFFCSFLMLNLFVAVIMDNFEYLTRDSSI->L<GPHHLDEFVRVWAEYDRAACGRIHYTEMYE1766
CACNA1FFMLCAFLIINLFVAVIMDNFDYLTRDWSI->L<GPHHLDEFKRIWSEYDPGAKGRIKHLDVVA1484
CACNA1GVLTAQFVLVNVVIAVLMKHLEESNKEAKE->-<-EAELEAELELEMKT-LSPQPHSPLGSPF-1890
CACNA1HVLVAQFVLVNVVVAVLMKHLEESNKEARE->-<-DAELDAEIELEMAQGPGSARRVDADRP--1899
CACNA1IVLTAQFVLINVVVAVLMKHLDDSNKEAQE->-<-DAEMDAELELEMAHGLGPGPRLPTGSPGA1771
CACNA1SYMLCAFLVINLFVAVIMDNFDYLTRDWSI->L<GPHHLDEFKAIWAEYDPEAKGRIKHLDVVT1424
SCN10AIIISFLIMVNMYIAVILENFNVATEESTEP>L<SEDDFDMFYETWEKFDPEATQFITFSALSD1766
SCN11AIIISFLIVVNMYIAVILENFNTATEESEDP>L<GEDDFDIFYEVWEKFDPEATQFIKYSALSD1648
SCN1AIIISFLVVVNMYIAVILENFSVATEESAEP>L<SEDDFEMFYEVWEKFDPDATQFMEFEKLSQ1830
SCN2AIIISFLVVVNMYIAVILENFSVATEESAEP>L<SEDDFEMFYEVWEKFDPDATQFIEFAKLSD1820
SCN3AIIISFLVVVNMYIAVILENFSVATEESAEP>L<SEDDFEMFYEVWEKFDPDATQFIEFSKLSD1815
SCN4AIIISFLIVVNMYIAIILENFNVATEESSEP>L<GEDDFEMFYETWEKFDPDATQFIAYSRLSD1642
SCN5AIIISFLIVVNMYIAIILENFSVATEESTEP>L<SEDDFDMFYEIWEKFDPEATQFIEYSVLSD1816
SCN7AILISWLIIVNMYIVVVMEFLNIASKKKNKT>L<SEDDFRKFFQVWKRFDPDRTQYIDSSKLSD1540
SCN8AIIISFLIVVNMYIAIILENFSVATEESADP>L<SEDDFETFYEIWEKFDPDATQFIEYCKLAD1810
SCN9AIIISFLVVVNMYIAVILENFSVATEESTEP>L<SEDDFEMFYEVWEKFDPDATQFIEFSKLSD1793
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1489 for CACNA1C.