Paralogue Annotation for CACNA1C residue 878

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 878
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 878

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AA1186TLong QT syndromeMedium4 19996378

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.



CACNA1CH-----------------LKEKAV-PMPEA>S<AFFIFSSNNRFRLQCHRIVNDTIFTNLILF908
CACNA1ADPLPKKEEEKKEEEEDDRGEDGPK-PMPPY>S<SMFILSTTNPLRRLCHYILNLRYFEMCILM1252
CACNA1B--LESQAEGKKEVEADDVMRSGPR-PIVPY>S<SMFCLSPTNLLRRFCHYIVTMRYFEVVILV1159
CACNA1DN-----------------MKEKIA-PIPEG>S<AFFILSKTNPIRVGCHKLINHHIFTNLILV914
CACNA1E--REDEEEVEKKKQKKEKRETG-K-AMVPH>S<SMFIFSTTNPIRRACHYIVNLRYFEMCILL1161
CACNA1FV-----------------PKEKVV-PIPEG>S<AFFCLSQTNPLRKGCHTLIHHHVFTNLILV879
CACNA1GR-----------------LP-ACCLERDSW>S<AY-IFPPQSRFRLLCHRIITHKMFDHVVLV1284
CACNA1HY-----------------KP-QWCRSREAW>A<LY-LFSPQNRFRVSCQKVITHKMFDHVVLV1302
CACNA1IY-----------------KP-DWCEVREDW>S<VY-LFSPENRFRVLCQTIIAHKLFDYVVLA1178
CACNA1SQ-----------------LKEKAV-PIPEA>S<SFFIFSPTNKIRVLCHRIVNATWFTNFILL807
SCN10A--------DDCFTEGCIRH-CPCCKLDTTK>S<P---WDVGWQVRKTCYRIVEHSWFESFIIF1160
SCN11A--------ERCLPKGFGCC-FPCCSVDKRK>P<P---WVIWWNLRKTCYQIVKHSWFESFIIF1064
SCN1A--------EACFTEGCVQR-FKCCQINVEE>G<R---GKQWWNLRRTCFRIVEHNWFETFIVF1226
SCN2A--------EACFTEDCVRK-FKCCQISIEE>G<K---GKLWWNLRKTCYKIVEHNWFETFIVF1216
SCN3A--------EACFTEGCIKK-FPFCQVSTEE>G<K---GKIWWNLRKTCYSIVEHNWFETFIVF1214
SCN4A--------EECFTEACVQR-WPCLYVDISQ>G<R---GKKWWTLRRACFKIVEHNWFETFIVF1039
SCN5A--------EDCFTEGCVRR-CPCCAVDTTQ>A<P---GKVWWRLRKTCYHIVEHSWFETFIIF1213
SCN7A--------SKHLKNGCRRG-SSLGQISGAS>K<K---GKIWQNIRKTCCKIVENNWFKCFIGL942
SCN8A--------DACFTEGCVQR-FKCCQVNIEE>G<L---GKSWWILRKTCFLIVEHNWFETFIIF1206
SCN9A--------EACFTDGCVWR-FSCCQVNIES>G<K---GKIWWNIRKTCYKIVEHSWFESFIVL1189
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 878 for CACNA1C.