Paralogue Annotation for CACNA1C residue 1501

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1501
Reference Amino Acid: W - Tryptophan
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1501

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AW1812SDravet syndromeHigh8 18930999
SCN1AW1812GMyoclonic epilepsy of infancyHigh8 12566275
CACNA1FW1466LNight blindness, congenital stationary, incompleteHigh8 25307992
SCN9AW1775RCongenital indifference to painHigh8 25995458, 25995458

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.



CACNA1CVAVIMDNFDYLTRDWSI-LGPHHLDEFKRI>W<AEYDPEAKGRIKHLDVVTLLRRIQPPLG--1529
CACNA1AVAVIMDNFEYLTRDSSI-LGPHHLDEYVRV>W<AEYDPAACGRIHYKDMYSLLRVISPPLG--1864
CACNA1BVAVIMDNFEYLTRDSSI-LGPHHLDEFIRV>W<AEYDPAACGRISYNDMFEMLKHMSPPLG--1762
CACNA1DVAVIMDNFDYLTRDWSI-LGPHHLDEFKRI>W<SEYDPEAKGRIKHLDVVTLLRRIQPPLG--1537
CACNA1EVAVIMDNFEYLTRDSSI-LGPHHLDEFVRV>W<AEYDRAACGRIHYTEMYEMLTLMSPPLG--1776
CACNA1FVAVIMDNFDYLTRDWSI-LGPHHLDEFKRI>W<SEYDPGAKGRIKHLDVVALLRRIQPPLG--1494
CACNA1GIAVLMKHLEESNKEAKE---EAELEAELEL>E<MKT-LSPQPHSPLGSPF-LWPGVEGPDS--1900
CACNA1HVAVLMKHLEESNKEARE---DAELDAEIEL>E<MAQGPGSARRVDADRP---------PLP--1902
CACNA1IVAVLMKHLDDSNKEAQE---DAEMDAELEL>E<MAHGLGPGPRLPTGSPGAPGR---GPGGAG1780
CACNA1SVAVIMDNFDYLTRDWSI-LGPHHLDEFKAI>W<AEYDPEAKGRIKHLDVVTLLRRIQPPLG--1434
SCN10AIAVILENFNVATEESTEPLSEDDFDMFYET>W<EKFDPEATQFITFSALSDFADTLSGPLR--1776
SCN11AIAVILENFNTATEESEDPLGEDDFDIFYEV>W<EKFDPEATQFIKYSALSDFADALPEPLR--1658
SCN1AIAVILENFSVATEESAEPLSEDDFEMFYEV>W<EKFDPDATQFMEFEKLSQFAAALEPPLN--1840
SCN2AIAVILENFSVATEESAEPLSEDDFEMFYEV>W<EKFDPDATQFIEFAKLSDFADALDPPLL--1830
SCN3AIAVILENFSVATEESAEPLSEDDFEMFYEV>W<EKFDPDATQFIEFSKLSDFAAALDPPLL--1825
SCN4AIAIILENFNVATEESSEPLGEDDFEMFYET>W<EKFDPDATQFIAYSRLSDFVDTLQEPLR--1652
SCN5AIAIILENFSVATEESTEPLSEDDFDMFYEI>W<EKFDPEATQFIEYSVLSDFADALSEPLR--1826
SCN7AIVVVMEFLNIASKKKNKTLSEDDFRKFFQV>W<KRFDPDRTQYIDSSKLSDFAAALDPPLF--1550
SCN8AIAIILENFSVATEESADPLSEDDFETFYEI>W<EKFDPDATQFIEYCKLADFADALEHPLR--1820
SCN9AIAVILENFSVATEESTEPLSEDDFEMFYEV>W<EKFDPDATQFIEFSKLSDFAAALDPPLL--1803
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1501 for CACNA1C.