Paralogue Annotation for CACNA1C residue 24

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 24
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 24

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN10AE19KBrugada syndromeLow3 25691538

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--MYIPEENHQGSNYGS------------P>R<-PAHANMN--------A-NAAAGLA----P40
CACNA1A--GD----EM-PARYGG------------G>G<SGAAAGV-------------VVGSG-GGRG32
CACNA1B--GD----EL-GGRYGG------------P>G<GGERA-----------------RGG-GAGG28
CACNA1D--MMMKKMQHQRQQQAD--------H--AN>E<-ANYARGT--------R-LPLSGEG----P39
CACNA1E--GE----AV-VARPGS------------->-<-GDGD----------------SD-Q-SRNR25
CACNA1F--E----GG----KDTT------------P>E<-PSPAN--------------GAGPG----P24
CACNA1G--GA-------------GAEESGQP-R-S->-<-------F--------M--RLND------L25
CACNA1HAADE--V-RV-P--LGAPPPGPAALVGASP>E<SPGAPGRE--------A--ERGS------E45
CACNA1I--SA-------------SPPSSSAAAPAA->-<----------------E--PGVTTE----Q25
CACNA1S------------------------------>-<------------------------------
SCN10A-P-I-------------GSLETNNFRRFTP>E<SLVEIEKQIAAKQGT-KKARE-KHRE-QKD46
SCN11A-P-V-------------IFPDERNFRPFTS>D<SLAAIEKRIAIQ-KEKKKSK-----D-QTG45
SCN1A-V-L-------------VPPGPDSFNFFTR>E<SLAAIERRIAEE-KAKNPKPD----K-KDD44
SCN2A-V-L-------------VPPGPDSFRFFTR>E<SLAAIEQRIAEE-KAKRPKQE----RKDED45
SCN3A-L-L-------------VPPGPESFRLFTR>E<SLAAIEKRAAEE-KAKKPKKE----Q-DND44
SCN4A-T-L-------------VPLGPECLRPFTR>E<SLAAIEQRAVEE-EARLQRNK----Q-MEI47
SCN5A-F-L-------------LPRGTSSFRRFTR>E<SLAAIEKRMAEK-QARGSTTLQESRE-GLP47
SCN7A-M-L-------------ASPEPKGLVPFTK>E<SFELIKQHIAKT--------H----N-EDH33
SCN8A-L-L-------------APPGPDSFKPFTP>E<SLANIERRIAES-KLKKPPKADGSHR-EDD48
SCN9A-M-L-------------PPPGPQSFVHFTK>Q<SLALIEQRIAER-KSKEPKEE----K-KDD42
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R24Hc.71G>A Putative BenignSIFT: tolerated
Polyphen: benign
p.R24Cc.70C>T Putative BenignSIFT:
Polyphen: