Paralogue Annotation for CACNA1C residue 118

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 118
Reference Amino Acid: I - Isoleucine
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 118

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV125LLong QT syndromeMedium9 15840476, 23805106
SCN9AI120MDravet syndromeHigh9 23895530

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.



CACNA1CKPKKQGSTTATRPPRALLCLTLKNPIRRAC>I<SIVEWKPFEIIILLTIFANCVALAIYIPFP148
CACNA1AYNPIPVRQNCLTVNRSLFLFSEDNVVRKYA>K<KITEWPPFEYMILATIIANCIVLALEQHLP122
CACNA1BYNPIPVKQNCFTVNRSLFVFSEDNVVRKYA>K<RITEWPPFEYMILATIIANCIVLALEQHLP119
CACNA1DKSKKQGNSSNSRPARALFCLSLNNPIRRAC>I<SIVEWKPFDIFILLAIFANCVALAIYIPFP150
CACNA1EYNPIPVRQNCFTVNRSLFIFGEDNIVRKYA>K<KLIDWPPFEYMILATIIANCIVLALEQHLP113
CACNA1FKHKTVAVASAQRSPRALFCLTLANPLRRSC>I<SIVEWKPFDILILLTIFANCVALGVYIPFP116
CACNA1GDSEAEGLPYPALAPVVFFYLSQDSRPRSWC>L<RTVCNPWFERISMLVILLNCVTLGMFRPCE105
CACNA1HADEEQRVPYPALAATVFFCLGQTTRPRSWC>L<RLVCNPWFEHVSMLVIMLNCVTLGMFRPCE124
CACNA1IG-ADPHVPHPDLAPIAFFCLRQTTSPRNWC>I<KMVCNPWFECVSMLVILLNCVTLGMYQPCD103
CACNA1SQPKKPVPEILPRPPRALFCLTLENPLRKAC>I<SIVEWKPFETIILLTIFANCVALAVYLPMP75
SCN10AVLNKGRTISRFSATRALWLFSPFNLIRRTA>I<KVSVHSWFSLFITVTILVNCVCMTRT----150
SCN11AVLNRKRTIYRFSAKHALFIFGPFNSIRSLA>I<RVSVHSLFSMFIIGTVIINCVFMATGPA-K152
SCN1AVLNKGKAIFRFSATSALYILTPFNPLRKIA>I<KILVHSLFSMLIMCTILTNCVFMTMS----148
SCN2AVLNKGKAISRFSATPALYILTPFNPIRKLA>I<KILVHSLFNMLIMCTILTNCVFMTMS----149
SCN3AVMNKGKAIFRFSATSALYILTPLNPVRKIA>I<KILVHSLFSMLIMCTILTNCVFMTLS----148
SCN4AVLNKGKAIFRFSATPALYLLSPFSVVRRGA>I<KVLIHALFSMFIMITILTNCVFMTMS----151
SCN5AVLNKGKTIFRFSATNALYVLSPFHPIRRAA>V<KILVHSLFNMLIMCTILTNCVFMAQH----151
SCN7AVLNKNRTIFRFNAASILCTLSPFNCIRRTT>I<KVLVHPFFQLFILISVLIDCVFMSLT----138
SCN8AVLNRGKTLFRFSATPALYILSPFNLIRRIA>I<KILIHSVFSMIIMCTILTNCVFMTFS----152
SCN9AVLNKGKTIFRFNATPALYMLSPFSPLRRIS>I<KILVHSLFSMLIMCTILTNCIFMTMN----146
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 118 for CACNA1C.