Paralogue Annotation for CACNA1C residue 189

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 189
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 189

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AT187IBrugada syndromeMedium9 16325048, 20539757
CACNA1FA157PNight blindness, congenital stationary 2High9 23714322

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.



CACNA1CERVEYLFLI-IFTVEAFLKVIAYGLLFHPN>A<YLRNGWNLLDFIIVVVGLFSAILEQATKA-218
CACNA1ADDTEPYFIG-IFCFEAGIKIIALGFAFHKG>S<YLRNGWNVMDFVVVLTGILATVGTEF----189
CACNA1BDDTEPYFIG-IFCFEAGIKIIALGFVFHKG>S<YLRNGWNVMDFVVVLTGILATAGTDF----186
CACNA1DEKVEYAFLI-IFTVETFLKIIAYGLLLHPN>A<YVRNGWNLLDFVIVIVGLFSVILEQLTKET221
CACNA1EEKTEPYFIG-IFCFEAGIKIVALGFIFHKG>S<YLRNGWNVMDFIVVLSGILATAGTHFN---181
CACNA1FEQVEYVFLV-IFTVETVLKIVAYGLVLHPS>A<YIRNGWNLLDFIIVVVGLFSVLLEQGPGRP187
CACNA1GLQAFDDFIFAFFAVEMVVKMVALGI-FGKK>C<YLGDTWNRLDFFIVIAGMLEYSLDLQ----172
CACNA1HLEAFDAFIFAFFAVEMVIKMVALGL-FGQK>C<YLGDTWNRLDFFIVVAGMMEYSLDGH----191
CACNA1ILQVFDDFIFIFFAMEMVLKMVALGI-FGKK>C<YLGDTWNRLDFFIVMAGMVEYSLDLQ----170
CACNA1SEKLEYFFLI-VFSIEAAMKIIAYGFLFHQD>A<YLRSGWNVLDFTIVFLGVFTVILEQVNVIQ146
SCN10A-KIEYVFTV-IYTFEALIKILARGFCLNEF>T<YLRDPWNWLDFSVITLAYVGTAIDLR----209
SCN11ADIAECVFTG-IYIFEALIKILARGFILDEF>S<FLRDPWNWLDSIVIGIAIVSYIPGIT----215
SCN1AKNVEYTFTG-IYTFESLIKIIARGFCLEDF>T<FLRDPWNWLDFTVITFAYVTEFVDLG----210
SCN2AKNVEYTFTG-IYTFESLIKILARGFCLEDF>T<FLRDPWNWLDFTVITFAYVTEFVDLG----211
SCN3AKNVEYTFTG-IYTFESLIKILARGFCLEDF>T<FLRDPWNWLDFSVIVMAYVTEFVDLG----210
SCN4AKNVEYTFTG-IYTFESLIKILARGFCVDDF>T<FLRDPWNWLDFSVIMMAYLTEFVDLG----213
SCN5AKYVEYTFTA-IYTFESLVKILARGFCLHAF>T<FLRDPWNWLDFSVIIMAYVSENIKLG----213
SCN7APVLENTLLG-IYTFEILVKLFARGVWAGSF>S<FLGDPWNWLDFSVTVFEVIIRYSPLD----200
SCN8AKNVEYTFTG-IYTFESLVKIIARGFCIDGF>T<FLRDPWNWLDFSVIMMAYITEFVNLG----214
SCN9AKNVEYTFTG-IYTFESLVKILARGFCVGEF>T<FLRDPWNWLDFVVIVFAYLTEFVNLG----208
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 189 for CACNA1C.