Paralogue Annotation for CACNA1C residue 176

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 176
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 176

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI171KMyoclonic epilepsy of infancyMedium9 17347258
SCN1AI171RDravet syndromeMedium9 18930999
SCN2AI172VAcute encephalopathy with biphasic seizures & lateMedium9 26311622

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.



CACNA1CFPEDDSNATNSNLERVEYLFLI-IFTVEAF>L<KVIAYGLLFHPNAYLRNGWNLLDFIIVVVG206
CACNA1ALPDDDKTPMSERLDDTEPYFIG-IFCFEAG>I<KIIALGFAFHKGSYLRNGWNVMDFVVVLTG180
CACNA1BLPDGDKTPMSERLDDTEPYFIG-IFCFEAG>I<KIIALGFVFHKGSYLRNGWNVMDFVVVLTG177
CACNA1DFPEDDSNSTNHNLEKVEYAFLI-IFTVETF>L<KIIAYGLLLHPNAYVRNGWNLLDFVIVIVG208
CACNA1ELPEDDKTPMSRRLEKTEPYFIG-IFCFEAG>I<KIVALGFIFHKGSYLRNGWNVMDFIVVLSG171
CACNA1FFPEDDSNTANHNLEQVEYVFLV-IFTVETV>L<KIVAYGLVLHPSAYIRNGWNLLDFIIVVVG174
CACNA1GCEDIACDSQRCRILQAFDDFIFAFFAVEMV>V<KMVALGI-FGKKCYLGDTWNRLDFFIVIAG163
CACNA1HCEDVECGSERCNILEAFDAFIFAFFAVEMV>I<KMVALGL-FGQKCYLGDTWNRLDFFIVVAG182
CACNA1ICDDMDCLSDRCKILQVFDDFIFIFFAMEMV>L<KMVALGI-FGKKCYLGDTWNRLDFFIVMAG161
CACNA1SMPEDDNNSLNLGLEKLEYFFLI-VFSIEAA>M<KIIAYGFLFHQDAYLRSGWNVLDFTIVFLG133
SCN10A----D-LPE-----KIEYVFTV-IYTFEAL>I<KILARGFCLNEFTYLRDPWNWLDFSVITLA200
SCN11A-K--NSNSNNT--DIAECVFTG-IYIFEAL>I<KILARGFILDEFSFLRDPWNWLDSIVIGIA206
SCN1A----N-PPDWT--KNVEYTFTG-IYTFESL>I<KIIARGFCLEDFTFLRDPWNWLDFTVITFA201
SCN2A----N-PPDWT--KNVEYTFTG-IYTFESL>I<KILARGFCLEDFTFLRDPWNWLDFTVITFA202
SCN3A----N-PPDWT--KNVEYTFTG-IYTFESL>I<KILARGFCLEDFTFLRDPWNWLDFSVIVMA201
SCN4A----D-PPPWS--KNVEYTFTG-IYTFESL>I<KILARGFCVDDFTFLRDPWNWLDFSVIMMA204
SCN5A----D-PPPWT--KYVEYTFTA-IYTFESL>V<KILARGFCLHAFTFLRDPWNWLDFSVIIMA204
SCN7A----N-LPKWR--PVLENTLLG-IYTFEIL>V<KLFARGVWAGSFSFLGDPWNWLDFSVTVFE191
SCN8A----N-PPDWS--KNVEYTFTG-IYTFESL>V<KIIARGFCIDGFTFLRDPWNWLDFSVIMMA205
SCN9A----N-PPDWT--KNVEYTFTG-IYTFESL>V<KILARGFCVGEFTFLRDPWNWLDFVVIVFA199
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 176 for CACNA1C.