Paralogue Annotation for CACNA1C residue 890

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 890
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 890

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AR1195HVentricular tachycardia High9 19632629
SCN1AR1208KDravet syndrome B ?High9 21248271

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.



CACNA1C------LKEKAV-PMPEASAFFIFSSNNRF>R<LQCHRIVNDTIFTNLILFFILLSSISLAAE920
CACNA1AEEEDDRGEDGPK-PMPPYSSMFILSTTNPL>R<RLCHYILNLRYFEMCILMVIAMSSIALAAE1264
CACNA1BVEADDVMRSGPR-PIVPYSSMFCLSPTNLL>R<RFCHYIVTMRYFEVVILVVIALSSIALAAE1171
CACNA1D------MKEKIA-PIPEGSAFFILSKTNPI>R<VGCHKLINHHIFTNLILVFIMLSSAALAAE926
CACNA1EKQKKEKRETG-K-AMVPHSSMFIFSTTNPI>R<RACHYIVNLRYFEMCILLVIAASSIALAAE1173
CACNA1F------PKEKVV-PIPEGSAFFCLSQTNPL>R<KGCHTLIHHHVFTNLILVFIILSSVSLAAE891
CACNA1G------LP-ACCLERDSWSAY-IFPPQSRF>R<LLCHRIITHKMFDHVVLVIIFLNCITIAME1296
CACNA1H------KP-QWCRSREAWALY-LFSPQNRF>R<VSCQKVITHKMFDHVVLVFIFLNCVTIALE1314
CACNA1I------KP-DWCEVREDWSVY-LFSPENRF>R<VLCQTIIAHKLFDYVVLAFIFLNCITIALE1190
CACNA1S------LKEKAV-PIPEASSFFIFSPTNKI>R<VLCHRIVNATWFTNFILLFILLSSAALAAE819
SCN10ATEGCIRH-CPCCKLDTTKSP---WDVGWQV>R<KTCYRIVEHSWFESFIIFMILLSSGSLAFE1172
SCN11APKGFGCC-FPCCSVDKRKPP---WVIWWNL>R<KTCYQIVKHSWFESFIIFVILLSSGALIFE1076
SCN1ATEGCVQR-FKCCQINVEEGR---GKQWWNL>R<RTCFRIVEHNWFETFIVFMILLSSGALAFE1238
SCN2ATEDCVRK-FKCCQISIEEGK---GKLWWNL>R<KTCYKIVEHNWFETFIVFMILLSSGALAFE1228
SCN3ATEGCIKK-FPFCQVSTEEGK---GKIWWNL>R<KTCYSIVEHNWFETFIVFMILLSSGALAFE1226
SCN4ATEACVQR-WPCLYVDISQGR---GKKWWTL>R<RACFKIVEHNWFETFIVFMILLSSGALAFE1051
SCN5ATEGCVRR-CPCCAVDTTQAP---GKVWWRL>R<KTCYHIVEHSWFETFIIFMILLSSGALAFE1225
SCN7AKNGCRRG-SSLGQISGASKK---GKIWQNI>R<KTCCKIVENNWFKCFIGLVTLLSTGTLAFE954
SCN8ATEGCVQR-FKCCQVNIEEGL---GKSWWIL>R<KTCFLIVEHNWFETFIIFMILLSSGALAFE1218
SCN9ATDGCVWR-FSCCQVNIESGK---GKIWWNI>R<KTCYKIVEHSWFESFIVLMILLSSGALAFE1201
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 890 for CACNA1C.