Paralogue Annotation for CACNA1C residue 852

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 852
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 852

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AP1090LNegative shift activationLow0 15992732, 27153395, 18368697, 18368697, 18368697

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------------------------------>E<MPVGPRP-----------------------859
CACNA1AQDLGRQDPPLAEDIDNMKNNKLATAESAAP>H<GSLGHAGLPQSPAKMGNSTDPGPMLAIPAM1113
CACNA1B---------------------------EKE>-<-------ATEKEAEIVEADKEKELR-NHQP1023
CACNA1D------------------------------>E<VPAGPRP-----------------------865
CACNA1E------------------------------>-<-------MGRVI-------S------QSEP1051
CACNA1F------------------------------>E<EEGAGGV-----------------------830
CACNA1G------------------------------>N<LSKGERV-----------------------1236
CACNA1H------------------------------>E<DSCCLRL-----------------------1254
CACNA1I------------------------------>D<YTLCFRV-----------------------1130
CACNA1S------------------------------>E<IPLSPRP-----------------------758
SCN10A------------------------------>-<------------------------------
SCN11A------------------------------>-<--------HQENKK------PT--------957
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN5A-------------------GGPEAP----->P<DSRTWSQVSATASS------EA--------1106
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 852 for CACNA1C.