Paralogue Annotation for CACNA1C residue 180

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 180
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 180

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AA178GBrugada syndromeHigh9 20129283, 24136861
SCN1AA175VDravet syndromeHigh9 18930999
SCN1AA175TMyoclonic epilepsy of infancyHigh9 17347258

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.



CACNA1CDSNATNSNLERVEYLFLI-IFTVEAFLKVI>A<YGLLFHPNAYLRNGWNLLDFIIVVVGLFSA210
CACNA1ADKTPMSERLDDTEPYFIG-IFCFEAGIKII>A<LGFAFHKGSYLRNGWNVMDFVVVLTGILAT184
CACNA1BDKTPMSERLDDTEPYFIG-IFCFEAGIKII>A<LGFVFHKGSYLRNGWNVMDFVVVLTGILAT181
CACNA1DDSNSTNHNLEKVEYAFLI-IFTVETFLKII>A<YGLLLHPNAYVRNGWNLLDFVIVIVGLFSV212
CACNA1EDKTPMSRRLEKTEPYFIG-IFCFEAGIKIV>A<LGFIFHKGSYLRNGWNVMDFIVVLSGILAT175
CACNA1FDSNTANHNLEQVEYVFLV-IFTVETVLKIV>A<YGLVLHPSAYIRNGWNLLDFIIVVVGLFSV178
CACNA1GACDSQRCRILQAFDDFIFAFFAVEMVVKMV>A<LGI-FGKKCYLGDTWNRLDFFIVIAGMLEY167
CACNA1HECGSERCNILEAFDAFIFAFFAVEMVIKMV>A<LGL-FGQKCYLGDTWNRLDFFIVVAGMMEY186
CACNA1IDCLSDRCKILQVFDDFIFIFFAMEMVLKMV>A<LGI-FGKKCYLGDTWNRLDFFIVMAGMVEY165
CACNA1SDNNSLNLGLEKLEYFFLI-VFSIEAAMKII>A<YGFLFHQDAYLRSGWNVLDFTIVFLGVFTV137
SCN10AD-LPE-----KIEYVFTV-IYTFEALIKIL>A<RGFCLNEFTYLRDPWNWLDFSVITLAYVGT204
SCN11ANSNSNNT--DIAECVFTG-IYIFEALIKIL>A<RGFILDEFSFLRDPWNWLDSIVIGIAIVSY210
SCN1AN-PPDWT--KNVEYTFTG-IYTFESLIKII>A<RGFCLEDFTFLRDPWNWLDFTVITFAYVTE205
SCN2AN-PPDWT--KNVEYTFTG-IYTFESLIKIL>A<RGFCLEDFTFLRDPWNWLDFTVITFAYVTE206
SCN3AN-PPDWT--KNVEYTFTG-IYTFESLIKIL>A<RGFCLEDFTFLRDPWNWLDFSVIVMAYVTE205
SCN4AD-PPPWS--KNVEYTFTG-IYTFESLIKIL>A<RGFCVDDFTFLRDPWNWLDFSVIMMAYLTE208
SCN5AD-PPPWT--KYVEYTFTA-IYTFESLVKIL>A<RGFCLHAFTFLRDPWNWLDFSVIIMAYVSE208
SCN7AN-LPKWR--PVLENTLLG-IYTFEILVKLF>A<RGVWAGSFSFLGDPWNWLDFSVTVFEVIIR195
SCN8AN-PPDWS--KNVEYTFTG-IYTFESLVKII>A<RGFCIDGFTFLRDPWNWLDFSVIMMAYITE209
SCN9AN-PPDWT--KNVEYTFTG-IYTFESLVKIL>A<RGFCVGEFTFLRDPWNWLDFVVIVFAYLTE203
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ala180Thrc.538G>A UnknownSIFT:
Polyphen: