Paralogue Annotation for CACNA1C residue 4

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 4
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 4

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AM1IBrugada syndromeMedium4 20129283
SCN1AM1TDravet syndrome C ?Medium3 21248271
SCN1AM1LDravet syndromeMedium3 18930999

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.



CACNA1CMVN>E<NTR--MYIPEENHQGSNYGS----------22
CACNA1AMAR>F<-----GD----EM-PARYGG----------14
CACNA1BMVR>F<-----GD----EL-GGRYGG----------14
CACNA1DMMM>M<-----MMMKKMQHQRQQQAD--------H-20
CACNA1EMAR>F<-----GE----AV-VARPGS----------14
CACNA1FMSE>S<-----E----GG----KDTT----------11
CACNA1GMDE>E<-ED--GA-------------GAEESGQP-R17
CACNA1HMTE>G<-ARAADE--V-RV-P--LGAPPPGPAALVG27
CACNA1IMAE>-<-----SA-------------SPPSSSAAAP15
CACNA1SMEP>-<------------------------------3
SCN10A--->-<MEF-P-I-------------GSLETNNFRR15
SCN11A-MD>D<RCY-P-V-------------IFPDERNFRP18
SCN1A--->M<EQT-V-L-------------VPPGPDSFNF16
SCN2A--->M<AQS-V-L-------------VPPGPDSFRF16
SCN3A--->M<AQA-L-L-------------VPPGPESFRL16
SCN4AMAR>P<SLC-T-L-------------VPLGPECLRP19
SCN5A---><MAN-F-L-------------LPRGTSSFRR15
SCN7A--->-<----M-L-------------ASPEPKGLVP12
SCN8A--->M<AAR-L-L-------------APPGPDSFKP16
SCN9A--->-<-MA-M-L-------------PPPGPQSFVH14
cons   > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 4 for CACNA1C.