Paralogue Annotation for CACNA1C residue 877

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 877
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 877

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FG848SCone-rod dystrophyMedium4 23776498

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-H-----------------LKEKAV-PMPE>A<SAFFIFSSNNRFRLQCHRIVNDTIFTNLIL907
CACNA1APDPLPKKEEEKKEEEEDDRGEDGPK-PMPP>Y<SSMFILSTTNPLRRLCHYILNLRYFEMCIL1251
CACNA1B---LESQAEGKKEVEADDVMRSGPR-PIVP>Y<SSMFCLSPTNLLRRFCHYIVTMRYFEVVIL1158
CACNA1D-N-----------------MKEKIA-PIPE>G<SAFFILSKTNPIRVGCHKLINHHIFTNLIL913
CACNA1E---REDEEEVEKKKQKKEKRETG-K-AMVP>H<SSMFIFSTTNPIRRACHYIVNLRYFEMCIL1160
CACNA1F-V-----------------PKEKVV-PIPE>G<SAFFCLSQTNPLRKGCHTLIHHHVFTNLIL878
CACNA1G-R-----------------LP-ACCLERDS>W<SAY-IFPPQSRFRLLCHRIITHKMFDHVVL1283
CACNA1H-Y-----------------KP-QWCRSREA>W<ALY-LFSPQNRFRVSCQKVITHKMFDHVVL1301
CACNA1I-Y-----------------KP-DWCEVRED>W<SVY-LFSPENRFRVLCQTIIAHKLFDYVVL1177
CACNA1S-Q-----------------LKEKAV-PIPE>A<SSFFIFSPTNKIRVLCHRIVNATWFTNFIL806
SCN10A---------DDCFTEGCIRH-CPCCKLDTT>K<SP---WDVGWQVRKTCYRIVEHSWFESFII1159
SCN11A---------ERCLPKGFGCC-FPCCSVDKR>K<PP---WVIWWNLRKTCYQIVKHSWFESFII1063
SCN1A---------EACFTEGCVQR-FKCCQINVE>E<GR---GKQWWNLRRTCFRIVEHNWFETFIV1225
SCN2A---------EACFTEDCVRK-FKCCQISIE>E<GK---GKLWWNLRKTCYKIVEHNWFETFIV1215
SCN3A---------EACFTEGCIKK-FPFCQVSTE>E<GK---GKIWWNLRKTCYSIVEHNWFETFIV1213
SCN4A---------EECFTEACVQR-WPCLYVDIS>Q<GR---GKKWWTLRRACFKIVEHNWFETFIV1038
SCN5A---------EDCFTEGCVRR-CPCCAVDTT>Q<AP---GKVWWRLRKTCYHIVEHSWFETFII1212
SCN7A---------SKHLKNGCRRG-SSLGQISGA>S<KK---GKIWQNIRKTCCKIVENNWFKCFIG941
SCN8A---------DACFTEGCVQR-FKCCQVNIE>E<GL---GKSWWILRKTCFLIVEHNWFETFII1205
SCN9A---------EACFTDGCVWR-FSCCQVNIE>S<GK---GKIWWNIRKTCYKIVEHSWFESFIV1188
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 877 for CACNA1C.