Paralogue Annotation for CACNA1C residue 119

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 119
Reference Amino Acid: S - Serine
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 119

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AK126EBrugada syndromeMedium9 12051963, 20981092, 23805106

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.



CACNA1CPKKQGSTTATRPPRALLCLTLKNPIRRACI>S<IVEWKPFEIIILLTIFANCVALAIYIPFPE149
CACNA1ANPIPVRQNCLTVNRSLFLFSEDNVVRKYAK>K<ITEWPPFEYMILATIIANCIVLALEQHLPD123
CACNA1BNPIPVKQNCFTVNRSLFVFSEDNVVRKYAK>R<ITEWPPFEYMILATIIANCIVLALEQHLPD120
CACNA1DSKKQGNSSNSRPARALFCLSLNNPIRRACI>S<IVEWKPFDIFILLAIFANCVALAIYIPFPE151
CACNA1ENPIPVRQNCFTVNRSLFIFGEDNIVRKYAK>K<LIDWPPFEYMILATIIANCIVLALEQHLPE114
CACNA1FHKTVAVASAQRSPRALFCLTLANPLRRSCI>S<IVEWKPFDILILLTIFANCVALGVYIPFPE117
CACNA1GSEAEGLPYPALAPVVFFYLSQDSRPRSWCL>R<TVCNPWFERISMLVILLNCVTLGMFRPCED106
CACNA1HDEEQRVPYPALAATVFFCLGQTTRPRSWCL>R<LVCNPWFEHVSMLVIMLNCVTLGMFRPCED125
CACNA1I-ADPHVPHPDLAPIAFFCLRQTTSPRNWCI>K<MVCNPWFECVSMLVILLNCVTLGMYQPCDD104
CACNA1SPKKPVPEILPRPPRALFCLTLENPLRKACI>S<IVEWKPFETIILLTIFANCVALAVYLPMPE76
SCN10ALNKGRTISRFSATRALWLFSPFNLIRRTAI>K<VSVHSWFSLFITVTILVNCVCMTRT-----150
SCN11ALNRKRTIYRFSAKHALFIFGPFNSIRSLAI>R<VSVHSLFSMFIIGTVIINCVFMATGPA-K-152
SCN1ALNKGKAIFRFSATSALYILTPFNPLRKIAI>K<ILVHSLFSMLIMCTILTNCVFMTMS-----148
SCN2ALNKGKAISRFSATPALYILTPFNPIRKLAI>K<ILVHSLFNMLIMCTILTNCVFMTMS-----149
SCN3AMNKGKAIFRFSATSALYILTPLNPVRKIAI>K<ILVHSLFSMLIMCTILTNCVFMTLS-----148
SCN4ALNKGKAIFRFSATPALYLLSPFSVVRRGAI>K<VLIHALFSMFIMITILTNCVFMTMS-----151
SCN5ALNKGKTIFRFSATNALYVLSPFHPIRRAAV>K<ILVHSLFNMLIMCTILTNCVFMAQH-----151
SCN7ALNKNRTIFRFNAASILCTLSPFNCIRRTTI>K<VLVHPFFQLFILISVLIDCVFMSLT-----138
SCN8ALNRGKTLFRFSATPALYILSPFNLIRRIAI>K<ILIHSVFSMIIMCTILTNCVFMTFS-----152
SCN9ALNKGKTIFRFNATPALYMLSPFSPLRRISI>K<ILVHSLFSMLIMCTILTNCIFMTMN-----146
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 119 for CACNA1C.