Paralogue Annotation for CACNA1C residue 1323

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1323
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1323

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV1630MMyoclonic epilepsy of infancyMedium5 17561957
SCN4AV1442ECongenital myasthenic syndrome ?Medium5 12766226
SCN1AV1630LMyoclonic epilepsy, borderlineMedium5 23195492, 22092154
SCN1AV1630GDravet syndromeMedium5 27465585

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.



CACNA1CTEVNPAE----HTQ----CSPSMNAEENSR>I<SITFFRLFRV---MRLVKLLSRGEGIRTLL1350
CACNA1ATEFGNN-----------------------F>I<NLSFLRLFRA---ARLIKLLRQGYTIRILL1682
CACNA1BTEIAET---------------------NNF>I<NLSFLRLFRA---ARLIKLLRQGYTIRILL1590
CACNA1DSEADPTE----SENVPVPTATPGNSEESNR>I<SITFFRLFRV---MRLVKLLSRGEGIRTLL1360
CACNA1ETDSKLV--------------------NTSG>F<NMSFLKLFRA---ARLIKLLRQGYTIRILL1597
CACNA1FTEVNNGG----HLG----E----SSEDSSR>I<SITFFRLFRV---MRLVKLLSKGEGIRTLL1317
CACNA1GEEIEVN--------------------ASLP>I<NPTIIRIMRVLRIARVLKLLKMAVGMRALL1733
CACNA1HEEIEMS--------------------AALP>I<NPTIIRIMRVLRIARVLKLLKMATGMRALL1739
CACNA1IEEIEIN--------------------AALP>I<NPTIIRIMRVLRIARVLKLLKMATGMRALL1609
CACNA1SSEIDTFLASSGGLYCLGGGCGNVDPDESAR>I<SSAFFRLFRV---MRLIKLLSRAEGVRTLL1257
SCN10ASAILKS--------------------LQSY>F<SPTLFRVIRLARIGRILRLIRAAKGIRTLL1597
SCN11ASTLENQ--------------------EHIP>F<PPTLFRIVRLARIGRILRLVRAARGIRTLL1487
SCN1AAELIE----------------------KYF>V<SPTLFRVIRLARIGRILRLIKGAKGIRTLL1660
SCN2AAELIE----------------------KYF>V<SPTLFRVIRLARIGRILRLIKGAKGIRTLL1650
SCN3AAEMIE----------------------KYF>V<SPTLFRVIRLARIGRILRLIKGAKGIRTLL1645
SCN4ASDLIQ----------------------KYF>V<SPTLFRVIRLARIGRVLRLIRGAKGIRTLL1472
SCN5ASDIIQ----------------------KYF>F<SPTLFRVIRLARIGRILRLIRGAKGIRTLL1647
SCN7APMTVG----------------------SYL>V<PPSLVQLILLSRIIHMLRLGKGPKVFHNLM1370
SCN8AADIIE----------------------KYF>V<SPTLFRVIRLARIGRILRLIKGAKGIRTLL1641
SCN9AADLIE----------------------TYF>V<SPTLFRVIRLARIGRILRLVKGAKGIRTLL1623
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1323 for CACNA1C.