Paralogue Annotation for CACNA1C residue 123

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 123
Reference Amino Acid: W - Tryptophan
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 123

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AH127DDravet syndrome B ?Medium9 21248271
SCN1AH127LDravet syndromeMedium9 26096185
SCN1AH127YEpilepsy with febrile seizures plusMedium9 27465585

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.



CACNA1CGSTTATRPPRALLCLTLKNPIRRACISIVE>W<KPFEIIILLTIFANCVALAIYIPFPEDDSN153
CACNA1AVRQNCLTVNRSLFLFSEDNVVRKYAKKITE>W<PPFEYMILATIIANCIVLALEQHLPDDDKT127
CACNA1BVKQNCFTVNRSLFVFSEDNVVRKYAKRITE>W<PPFEYMILATIIANCIVLALEQHLPDGDKT124
CACNA1DGNSSNSRPARALFCLSLNNPIRRACISIVE>W<KPFDIFILLAIFANCVALAIYIPFPEDDSN155
CACNA1EVRQNCFTVNRSLFIFGEDNIVRKYAKKLID>W<PPFEYMILATIIANCIVLALEQHLPEDDKT118
CACNA1FAVASAQRSPRALFCLTLANPLRRSCISIVE>W<KPFDILILLTIFANCVALGVYIPFPEDDSN121
CACNA1GGLPYPALAPVVFFYLSQDSRPRSWCLRTVC>N<PWFERISMLVILLNCVTLGMFRPCEDIACD110
CACNA1HRVPYPALAATVFFCLGQTTRPRSWCLRLVC>N<PWFEHVSMLVIMLNCVTLGMFRPCEDVECG129
CACNA1IHVPHPDLAPIAFFCLRQTTSPRNWCIKMVC>N<PWFECVSMLVILLNCVTLGMYQPCDDMDCL108
CACNA1SVPEILPRPPRALFCLTLENPLRKACISIVE>W<KPFETIILLTIFANCVALAVYLPMPEDDNN80
SCN10ARTISRFSATRALWLFSPFNLIRRTAIKVSV>H<SWFSLFITVTILVNCVCMTRT------D-L152
SCN11ARTIYRFSAKHALFIFGPFNSIRSLAIRVSV>H<SLFSMFIIGTVIINCVFMATGPA-K--NSN155
SCN1AKAIFRFSATSALYILTPFNPLRKIAIKILV>H<SLFSMLIMCTILTNCVFMTMS------N-P150
SCN2AKAISRFSATPALYILTPFNPIRKLAIKILV>H<SLFNMLIMCTILTNCVFMTMS------N-P151
SCN3AKAIFRFSATSALYILTPLNPVRKIAIKILV>H<SLFSMLIMCTILTNCVFMTLS------N-P150
SCN4AKAIFRFSATPALYLLSPFSVVRRGAIKVLI>H<ALFSMFIMITILTNCVFMTMS------D-P153
SCN5AKTIFRFSATNALYVLSPFHPIRRAAVKILV>H<SLFNMLIMCTILTNCVFMAQH------D-P153
SCN7ARTIFRFNAASILCTLSPFNCIRRTTIKVLV>H<PFFQLFILISVLIDCVFMSLT------N-L140
SCN8AKTLFRFSATPALYILSPFNLIRRIAIKILI>H<SVFSMIIMCTILTNCVFMTFS------N-P154
SCN9AKTIFRFNATPALYMLSPFSPLRRISIKILV>H<SLFSMLIMCTILTNCIFMTMN------N-P148
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 123 for CACNA1C.