Paralogue Annotation for CACNA1C residue 1497

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1497
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1497

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1808IDravet syndromeHigh8 18930999
SCN1AF1808LMyoclonic epilepsy of infancyHigh8 12566275, 16210358

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.



CACNA1CINLFVAVIMDNFDYLTRDWSI-LGPHHLDE>F<KRIWAEYDPEAKGRIKHLDVVTLLRRIQPP1527
CACNA1ALNLFVAVIMDNFEYLTRDSSI-LGPHHLDE>Y<VRVWAEYDPAACGRIHYKDMYSLLRVISPP1862
CACNA1BLNLFVAVIMDNFEYLTRDSSI-LGPHHLDE>F<IRVWAEYDPAACGRISYNDMFEMLKHMSPP1760
CACNA1DINLFVAVIMDNFDYLTRDWSI-LGPHHLDE>F<KRIWSEYDPEAKGRIKHLDVVTLLRRIQPP1535
CACNA1ELNLFVAVIMDNFEYLTRDSSI-LGPHHLDE>F<VRVWAEYDRAACGRIHYTEMYEMLTLMSPP1774
CACNA1FINLFVAVIMDNFDYLTRDWSI-LGPHHLDE>F<KRIWSEYDPGAKGRIKHLDVVALLRRIQPP1492
CACNA1GVNVVIAVLMKHLEESNKEAKE---EAELEA>E<LELEMKT-LSPQPHSPLGSPF-LWPGVEGP1898
CACNA1HVNVVVAVLMKHLEESNKEARE---DAELDA>E<IELEMAQGPGSARRVDADRP---------P1900
CACNA1IINVVVAVLMKHLDDSNKEAQE---DAEMDA>E<LELEMAHGLGPGPRLPTGSPGAPGR---GP1776
CACNA1SINLFVAVIMDNFDYLTRDWSI-LGPHHLDE>F<KAIWAEYDPEAKGRIKHLDVVTLLRRIQPP1432
SCN10AVNMYIAVILENFNVATEESTEPLSEDDFDM>F<YETWEKFDPEATQFITFSALSDFADTLSGP1774
SCN11AVNMYIAVILENFNTATEESEDPLGEDDFDI>F<YEVWEKFDPEATQFIKYSALSDFADALPEP1656
SCN1AVNMYIAVILENFSVATEESAEPLSEDDFEM>F<YEVWEKFDPDATQFMEFEKLSQFAAALEPP1838
SCN2AVNMYIAVILENFSVATEESAEPLSEDDFEM>F<YEVWEKFDPDATQFIEFAKLSDFADALDPP1828
SCN3AVNMYIAVILENFSVATEESAEPLSEDDFEM>F<YEVWEKFDPDATQFIEFSKLSDFAAALDPP1823
SCN4AVNMYIAIILENFNVATEESSEPLGEDDFEM>F<YETWEKFDPDATQFIAYSRLSDFVDTLQEP1650
SCN5AVNMYIAIILENFSVATEESTEPLSEDDFDM>F<YEIWEKFDPEATQFIEYSVLSDFADALSEP1824
SCN7AVNMYIVVVMEFLNIASKKKNKTLSEDDFRK>F<FQVWKRFDPDRTQYIDSSKLSDFAAALDPP1548
SCN8AVNMYIAIILENFSVATEESADPLSEDDFET>F<YEIWEKFDPDATQFIEYCKLADFADALEHP1818
SCN9AVNMYIAVILENFSVATEESTEPLSEDDFEM>F<YEVWEKFDPDATQFIEFSKLSDFAAALDPP1801
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1497 for CACNA1C.