Paralogue Annotation for CACNA1C residue 184

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 184
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 184

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AC182RBrugada syndromeMedium9 20129283
SCN1AC179RMyoclonic epilepsy of infancyMedium9 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.



CACNA1CTNSNLERVEYLFLI-IFTVEAFLKVIAYGL>L<FHPNAYLRNGWNLLDFIIVVVGLFSAILEQ214
CACNA1AMSERLDDTEPYFIG-IFCFEAGIKIIALGF>A<FHKGSYLRNGWNVMDFVVVLTGILATVGTE188
CACNA1BMSERLDDTEPYFIG-IFCFEAGIKIIALGF>V<FHKGSYLRNGWNVMDFVVVLTGILATAGTD185
CACNA1DTNHNLEKVEYAFLI-IFTVETFLKIIAYGL>L<LHPNAYVRNGWNLLDFVIVIVGLFSVILEQ216
CACNA1EMSRRLEKTEPYFIG-IFCFEAGIKIVALGF>I<FHKGSYLRNGWNVMDFIVVLSGILATAGTH179
CACNA1FANHNLEQVEYVFLV-IFTVETVLKIVAYGL>V<LHPSAYIRNGWNLLDFIIVVVGLFSVLLEQ182
CACNA1GQRCRILQAFDDFIFAFFAVEMVVKMVALGI>-<FGKKCYLGDTWNRLDFFIVIAGMLEYSLDL171
CACNA1HERCNILEAFDAFIFAFFAVEMVIKMVALGL>-<FGQKCYLGDTWNRLDFFIVVAGMMEYSLDG190
CACNA1IDRCKILQVFDDFIFIFFAMEMVLKMVALGI>-<FGKKCYLGDTWNRLDFFIVMAGMVEYSLDL169
CACNA1SLNLGLEKLEYFFLI-VFSIEAAMKIIAYGF>L<FHQDAYLRSGWNVLDFTIVFLGVFTVILEQ141
SCN10AE-----KIEYVFTV-IYTFEALIKILARGF>C<LNEFTYLRDPWNWLDFSVITLAYVGTAIDL208
SCN11ANNT--DIAECVFTG-IYIFEALIKILARGF>I<LDEFSFLRDPWNWLDSIVIGIAIVSYIPGI214
SCN1ADWT--KNVEYTFTG-IYTFESLIKIIARGF>C<LEDFTFLRDPWNWLDFTVITFAYVTEFVDL209
SCN2ADWT--KNVEYTFTG-IYTFESLIKILARGF>C<LEDFTFLRDPWNWLDFTVITFAYVTEFVDL210
SCN3ADWT--KNVEYTFTG-IYTFESLIKILARGF>C<LEDFTFLRDPWNWLDFSVIVMAYVTEFVDL209
SCN4APWS--KNVEYTFTG-IYTFESLIKILARGF>C<VDDFTFLRDPWNWLDFSVIMMAYLTEFVDL212
SCN5APWT--KYVEYTFTA-IYTFESLVKILARGF>C<LHAFTFLRDPWNWLDFSVIIMAYVSENIKL212
SCN7AKWR--PVLENTLLG-IYTFEILVKLFARGV>W<AGSFSFLGDPWNWLDFSVTVFEVIIRYSPL199
SCN8ADWS--KNVEYTFTG-IYTFESLVKIIARGF>C<IDGFTFLRDPWNWLDFSVIMMAYITEFVNL213
SCN9ADWT--KNVEYTFTG-IYTFESLVKILARGF>C<VGEFTFLRDPWNWLDFVVIVFAYLTEFVNL207
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 184 for CACNA1C.