Paralogue Annotation for CACNA1C residue 183

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 183
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 183

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF178SIntractable epilepsyMedium9 23195492

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.



CACNA1CATNSNLERVEYLFLI-IFTVEAFLKVIAYG>L<LFHPNAYLRNGWNLLDFIIVVVGLFSAILE213
CACNA1APMSERLDDTEPYFIG-IFCFEAGIKIIALG>F<AFHKGSYLRNGWNVMDFVVVLTGILATVGT187
CACNA1BPMSERLDDTEPYFIG-IFCFEAGIKIIALG>F<VFHKGSYLRNGWNVMDFVVVLTGILATAGT184
CACNA1DSTNHNLEKVEYAFLI-IFTVETFLKIIAYG>L<LLHPNAYVRNGWNLLDFVIVIVGLFSVILE215
CACNA1EPMSRRLEKTEPYFIG-IFCFEAGIKIVALG>F<IFHKGSYLRNGWNVMDFIVVLSGILATAGT178
CACNA1FTANHNLEQVEYVFLV-IFTVETVLKIVAYG>L<VLHPSAYIRNGWNLLDFIIVVVGLFSVLLE181
CACNA1GSQRCRILQAFDDFIFAFFAVEMVVKMVALG>I<-FGKKCYLGDTWNRLDFFIVIAGMLEYSLD170
CACNA1HSERCNILEAFDAFIFAFFAVEMVIKMVALG>L<-FGQKCYLGDTWNRLDFFIVVAGMMEYSLD189
CACNA1ISDRCKILQVFDDFIFIFFAMEMVLKMVALG>I<-FGKKCYLGDTWNRLDFFIVMAGMVEYSLD168
CACNA1SSLNLGLEKLEYFFLI-VFSIEAAMKIIAYG>F<LFHQDAYLRSGWNVLDFTIVFLGVFTVILE140
SCN10APE-----KIEYVFTV-IYTFEALIKILARG>F<CLNEFTYLRDPWNWLDFSVITLAYVGTAID207
SCN11ASNNT--DIAECVFTG-IYIFEALIKILARG>F<ILDEFSFLRDPWNWLDSIVIGIAIVSYIPG213
SCN1APDWT--KNVEYTFTG-IYTFESLIKIIARG>F<CLEDFTFLRDPWNWLDFTVITFAYVTEFVD208
SCN2APDWT--KNVEYTFTG-IYTFESLIKILARG>F<CLEDFTFLRDPWNWLDFTVITFAYVTEFVD209
SCN3APDWT--KNVEYTFTG-IYTFESLIKILARG>F<CLEDFTFLRDPWNWLDFSVIVMAYVTEFVD208
SCN4APPWS--KNVEYTFTG-IYTFESLIKILARG>F<CVDDFTFLRDPWNWLDFSVIMMAYLTEFVD211
SCN5APPWT--KYVEYTFTA-IYTFESLVKILARG>F<CLHAFTFLRDPWNWLDFSVIIMAYVSENIK211
SCN7APKWR--PVLENTLLG-IYTFEILVKLFARG>V<WAGSFSFLGDPWNWLDFSVTVFEVIIRYSP198
SCN8APDWS--KNVEYTFTG-IYTFESLVKIIARG>F<CIDGFTFLRDPWNWLDFSVIMMAYITEFVN212
SCN9APDWT--KNVEYTFTG-IYTFESLVKILARG>F<CVGEFTFLRDPWNWLDFVVIVFAYLTEFVN206
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 183 for CACNA1C.