Paralogue Annotation for CACNA1C residue 1498

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1498
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1498

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AY1795HBrugada syndromeMedium8 11410597
SCN5AY1795CLong QT syndromeMedium8 11410597, 22129298

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.



CACNA1CNLFVAVIMDNFDYLTRDWSI-LGPHHLDEF>K<RIWAEYDPEAKGRIKHLDVVTLLRRIQPPL1528
CACNA1ANLFVAVIMDNFEYLTRDSSI-LGPHHLDEY>V<RVWAEYDPAACGRIHYKDMYSLLRVISPPL1863
CACNA1BNLFVAVIMDNFEYLTRDSSI-LGPHHLDEF>I<RVWAEYDPAACGRISYNDMFEMLKHMSPPL1761
CACNA1DNLFVAVIMDNFDYLTRDWSI-LGPHHLDEF>K<RIWSEYDPEAKGRIKHLDVVTLLRRIQPPL1536
CACNA1ENLFVAVIMDNFEYLTRDSSI-LGPHHLDEF>V<RVWAEYDRAACGRIHYTEMYEMLTLMSPPL1775
CACNA1FNLFVAVIMDNFDYLTRDWSI-LGPHHLDEF>K<RIWSEYDPGAKGRIKHLDVVALLRRIQPPL1493
CACNA1GNVVIAVLMKHLEESNKEAKE---EAELEAE>L<ELEMKT-LSPQPHSPLGSPF-LWPGVEGPD1899
CACNA1HNVVVAVLMKHLEESNKEARE---DAELDAE>I<ELEMAQGPGSARRVDADRP---------PL1901
CACNA1INVVVAVLMKHLDDSNKEAQE---DAEMDAE>L<ELEMAHGLGPGPRLPTGSPGAPGR---GPG1777
CACNA1SNLFVAVIMDNFDYLTRDWSI-LGPHHLDEF>K<AIWAEYDPEAKGRIKHLDVVTLLRRIQPPL1433
SCN10ANMYIAVILENFNVATEESTEPLSEDDFDMF>Y<ETWEKFDPEATQFITFSALSDFADTLSGPL1775
SCN11ANMYIAVILENFNTATEESEDPLGEDDFDIF>Y<EVWEKFDPEATQFIKYSALSDFADALPEPL1657
SCN1ANMYIAVILENFSVATEESAEPLSEDDFEMF>Y<EVWEKFDPDATQFMEFEKLSQFAAALEPPL1839
SCN2ANMYIAVILENFSVATEESAEPLSEDDFEMF>Y<EVWEKFDPDATQFIEFAKLSDFADALDPPL1829
SCN3ANMYIAVILENFSVATEESAEPLSEDDFEMF>Y<EVWEKFDPDATQFIEFSKLSDFAAALDPPL1824
SCN4ANMYIAIILENFNVATEESSEPLGEDDFEMF>Y<ETWEKFDPDATQFIAYSRLSDFVDTLQEPL1651
SCN5ANMYIAIILENFSVATEESTEPLSEDDFDMF>Y<EIWEKFDPEATQFIEYSVLSDFADALSEPL1825
SCN7ANMYIVVVMEFLNIASKKKNKTLSEDDFRKF>F<QVWKRFDPDRTQYIDSSKLSDFAAALDPPL1549
SCN8ANMYIAIILENFSVATEESADPLSEDDFETF>Y<EIWEKFDPDATQFIEYCKLADFADALEHPL1819
SCN9ANMYIAVILENFSVATEESTEPLSEDDFEMF>Y<EVWEKFDPDATQFIEFSKLSDFAAALDPPL1802
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1498 for CACNA1C.