Paralogue Annotation for CACNA1C residue 1488

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1488
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1488

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AE1784KLong QT syndromeMedium6 10377081, 10727653, 21321465, 24871449, 18451998, 18451998, 24784157, 26131924

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.



CACNA1CSFYMLCAFLIINLFVAVIMDNFDYLTRDWS>I<-LGPHHLDEFKRIWAEYDPEAKGRIKHLDV1517
CACNA1ASFIFLCSFLMLNLFVAVIMDNFEYLTRDSS>I<-LGPHHLDEYVRVWAEYDPAACGRIHYKDM1852
CACNA1BSFIFLCSFLMLNLFVAVIMDNFEYLTRDSS>I<-LGPHHLDEFIRVWAEYDPAACGRISYNDM1750
CACNA1DSFYMLCAFLIINLFVAVIMDNFDYLTRDWS>I<-LGPHHLDEFKRIWSEYDPEAKGRIKHLDV1525
CACNA1ESFIFFCSFLMLNLFVAVIMDNFEYLTRDSS>I<-LGPHHLDEFVRVWAEYDRAACGRIHYTEM1764
CACNA1FSFFMLCAFLIINLFVAVIMDNFDYLTRDWS>I<-LGPHHLDEFKRIWSEYDPGAKGRIKHLDV1482
CACNA1GSFVLTAQFVLVNVVIAVLMKHLEESNKEAK>E<---EAELEAELELEMKT-LSPQPHSPLGSP1889
CACNA1HTFVLVAQFVLVNVVVAVLMKHLEESNKEAR>E<---DAELDAEIELEMAQGPGSARRVDADRP1899
CACNA1ISFVLTAQFVLINVVVAVLMKHLDDSNKEAQ>E<---DAEMDAELELEMAHGLGPGPRLPTGSP1769
CACNA1SSFYMLCAFLVINLFVAVIMDNFDYLTRDWS>I<-LGPHHLDEFKAIWAEYDPEAKGRIKHLDV1422
SCN10ATYIIISFLIMVNMYIAVILENFNVATEEST>E<PLSEDDFDMFYETWEKFDPEATQFITFSAL1764
SCN11ASYIIISFLIVVNMYIAVILENFNTATEESE>D<PLGEDDFDIFYEVWEKFDPEATQFIKYSAL1646
SCN1ASYIIISFLVVVNMYIAVILENFSVATEESA>E<PLSEDDFEMFYEVWEKFDPDATQFMEFEKL1828
SCN2ASYIIISFLVVVNMYIAVILENFSVATEESA>E<PLSEDDFEMFYEVWEKFDPDATQFIEFAKL1818
SCN3ASYIIISFLVVVNMYIAVILENFSVATEESA>E<PLSEDDFEMFYEVWEKFDPDATQFIEFSKL1813
SCN4ASYIIISFLIVVNMYIAIILENFNVATEESS>E<PLGEDDFEMFYETWEKFDPDATQFIAYSRL1640
SCN5ATYIIISFLIVVNMYIAIILENFSVATEEST>E<PLSEDDFDMFYEIWEKFDPEATQFIEYSVL1814
SCN7ASYILISWLIIVNMYIVVVMEFLNIASKKKN>K<TLSEDDFRKFFQVWKRFDPDRTQYIDSSKL1538
SCN8ASYIIISFLIVVNMYIAIILENFSVATEESA>D<PLSEDDFETFYEIWEKFDPDATQFIEYCKL1808
SCN9ASYIIISFLVVVNMYIAVILENFSVATEEST>E<PLSEDDFEMFYEVWEKFDPDATQFIEFSKL1791
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1488 for CACNA1C.