Paralogue Annotation for CACNA1C residue 1588

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1588
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1588

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AR1882QEpileptic encephalopathyMedium4 23708187
SCN2AR1882LSeizures, intellectual disability, optic atrophy, Medium4 24579881
SCN8AR1872WEpileptic encephalopathy, infantileMedium4 24888894, 25951352, 26900580
SCN8AR1872QEpileptic encephalopathyMedium4 25568300, 26647175, 26900580
SCN1AR1892GEpilepsy, focalMedium4 26802095
SCN1AR1892XMyoclonic epilepsy of infancyMedium4 11940708, 19563349
SCN2AR1882GEpilepsy, neonatal with episodic ataxia, late-onseMedium4 26645390
SCN8AR1872LEpileptic encephalopathy, infantileMedium4 26900580

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.



CACNA1CTLFALVRTALRIKTEG---NLEQANEELRA>I<IKKIW-KRT-SMKLLDQVVPPAGDDEVTVG1616
CACNA1ATLMALIRTALDIKIAKGGADKQQMDAELRK>E<MMAIW-PNL-SQKTLDLLVTPHKSTDLTVG1954
CACNA1BTLMALIRTALEIKLAPAGTKQHQCDAELRK>E<ISVVW-ANL-PQKTLDLLVPPHKPDEMTVG1853
CACNA1DTLFALVRTALKIKTEG---NLEQANEELRA>V<IKKIW-KKT-SMKLLDQVVPPAGDDEVTVG1624
CACNA1ETLMALIRTALDIKIAKGGADRQQLDSELQK>E<TLAIW-PHL-SQKMLDLLVPMPKASDLTVG1866
CACNA1FTLFALVRTSLKIKTEG---NLEQANQELRI>V<IKKIW-KRM-KQKLLDEVIPPPDEEEVTVG1581
CACNA1GLEHPTDRQLFDTI---S--LLIQGSLEWEL>K<LMDEL-AGPGGQPSAFPSAPSLGGSDP---1974
CACNA1H----LVARKV----------------SVSR>M<L-SLPNDSYM----FRPVVPASAPHPR---1946
CACNA1ISVSLIIKDSL----------------EGEL>T<IIDNL-SGSI----FHHYSSPAGCKKCHHD1844
CACNA1STLFALVRTALKIKTEG---NFEQANEELRA>I<IKKIW-KRT-SMKLLDQVIPPIGDDEVTVG1521
SCN10AILFAFTKNVLGES--G---ELDSLKANMEE>K<FMA---TNL-SKSSYEPIATTLRWKQEDIS1854
SCN11AILFAFTARVLGGS--D---GLDSMKAMMEE>K<FME---ANP-LKKLYEPIVTTTKRKEEERG1736
SCN1AILFAFTKRVLGES--G---EMDALRIQMEE>R<FMA---SNP-SKVSYQPITTTLKRKQEEVS1918
SCN2AILFAFTKRVLGES--G---EMDALRIQMEE>R<FMA---SNP-SKVSYEPITTTLKRKQEEVS1908
SCN3AILFAFTKRVLGES--G---EMDALRIQMED>R<FMA---SNP-SKVSYEPITTTLKRKQEEVS1903
SCN4AILFALTKEVLGDS--G---EMDALKQTMEE>K<FMA---ANP-SKVSYEPITTTLKRKHEEVC1730
SCN5AILFAFTKRVLGES--G---EMDALKIQMEE>K<FMA---ANP-SKISYEPITTTLRRKHEEVS1904
SCN7AILLAFTKRVMGQD--V---RMEKVVSEIES>G<FLL---ANP-FKITCEPITTTLKRKQEAVS1628
SCN8AILFAFTKRVLGDS--G---ELDILRQQMEE>R<FVA---SNP-SKVSYEPITTTLRRKQEEVS1898
SCN9AILFAFTKRVLGES--G---EMDSLRSQMEE>R<FMS---ANP-SKVSYEPITTTLKRKQEDVS1881
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1588 for CACNA1C.