Paralogue Annotation for CACNA1C residue 182

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 182
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 182

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FG150RNight blindness, congenital stationary, incompleteHigh9 12187427
SCN1AG177EMyoclonic epilepsy of infancyHigh9 12821740, 17054685, 27236449
SCN1AG177RDravet syndromeHigh9 18076640, 25525159
SCN1AG177VDravet syndromeHigh9 26252084

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.



CACNA1CNATNSNLERVEYLFLI-IFTVEAFLKVIAY>G<LLFHPNAYLRNGWNLLDFIIVVVGLFSAIL212
CACNA1ATPMSERLDDTEPYFIG-IFCFEAGIKIIAL>G<FAFHKGSYLRNGWNVMDFVVVLTGILATVG186
CACNA1BTPMSERLDDTEPYFIG-IFCFEAGIKIIAL>G<FVFHKGSYLRNGWNVMDFVVVLTGILATAG183
CACNA1DNSTNHNLEKVEYAFLI-IFTVETFLKIIAY>G<LLLHPNAYVRNGWNLLDFVIVIVGLFSVIL214
CACNA1ETPMSRRLEKTEPYFIG-IFCFEAGIKIVAL>G<FIFHKGSYLRNGWNVMDFIVVLSGILATAG177
CACNA1FNTANHNLEQVEYVFLV-IFTVETVLKIVAY>G<LVLHPSAYIRNGWNLLDFIIVVVGLFSVLL180
CACNA1GDSQRCRILQAFDDFIFAFFAVEMVVKMVAL>G<I-FGKKCYLGDTWNRLDFFIVIAGMLEYSL169
CACNA1HGSERCNILEAFDAFIFAFFAVEMVIKMVAL>G<L-FGQKCYLGDTWNRLDFFIVVAGMMEYSL188
CACNA1ILSDRCKILQVFDDFIFIFFAMEMVLKMVAL>G<I-FGKKCYLGDTWNRLDFFIVMAGMVEYSL167
CACNA1SNSLNLGLEKLEYFFLI-VFSIEAAMKIIAY>G<FLFHQDAYLRSGWNVLDFTIVFLGVFTVIL139
SCN10ALPE-----KIEYVFTV-IYTFEALIKILAR>G<FCLNEFTYLRDPWNWLDFSVITLAYVGTAI206
SCN11ANSNNT--DIAECVFTG-IYIFEALIKILAR>G<FILDEFSFLRDPWNWLDSIVIGIAIVSYIP212
SCN1APPDWT--KNVEYTFTG-IYTFESLIKIIAR>G<FCLEDFTFLRDPWNWLDFTVITFAYVTEFV207
SCN2APPDWT--KNVEYTFTG-IYTFESLIKILAR>G<FCLEDFTFLRDPWNWLDFTVITFAYVTEFV208
SCN3APPDWT--KNVEYTFTG-IYTFESLIKILAR>G<FCLEDFTFLRDPWNWLDFSVIVMAYVTEFV207
SCN4APPPWS--KNVEYTFTG-IYTFESLIKILAR>G<FCVDDFTFLRDPWNWLDFSVIMMAYLTEFV210
SCN5APPPWT--KYVEYTFTA-IYTFESLVKILAR>G<FCLHAFTFLRDPWNWLDFSVIIMAYVSENI210
SCN7ALPKWR--PVLENTLLG-IYTFEILVKLFAR>G<VWAGSFSFLGDPWNWLDFSVTVFEVIIRYS197
SCN8APPDWS--KNVEYTFTG-IYTFESLVKIIAR>G<FCIDGFTFLRDPWNWLDFSVIMMAYITEFV211
SCN9APPDWT--KNVEYTFTG-IYTFESLVKILAR>G<FCVGEFTFLRDPWNWLDFVVIVFAYLTEFV205
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 182 for CACNA1C.