Paralogue Annotation for CACNA1C residue 177

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 177
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 177

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AK175NBrugada syndromeHigh9 20129283

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.



CACNA1CPEDDSNATNSNLERVEYLFLI-IFTVEAFL>K<VIAYGLLFHPNAYLRNGWNLLDFIIVVVGL207
CACNA1APDDDKTPMSERLDDTEPYFIG-IFCFEAGI>K<IIALGFAFHKGSYLRNGWNVMDFVVVLTGI181
CACNA1BPDGDKTPMSERLDDTEPYFIG-IFCFEAGI>K<IIALGFVFHKGSYLRNGWNVMDFVVVLTGI178
CACNA1DPEDDSNSTNHNLEKVEYAFLI-IFTVETFL>K<IIAYGLLLHPNAYVRNGWNLLDFVIVIVGL209
CACNA1EPEDDKTPMSRRLEKTEPYFIG-IFCFEAGI>K<IVALGFIFHKGSYLRNGWNVMDFIVVLSGI172
CACNA1FPEDDSNTANHNLEQVEYVFLV-IFTVETVL>K<IVAYGLVLHPSAYIRNGWNLLDFIIVVVGL175
CACNA1GEDIACDSQRCRILQAFDDFIFAFFAVEMVV>K<MVALGI-FGKKCYLGDTWNRLDFFIVIAGM164
CACNA1HEDVECGSERCNILEAFDAFIFAFFAVEMVI>K<MVALGL-FGQKCYLGDTWNRLDFFIVVAGM183
CACNA1IDDMDCLSDRCKILQVFDDFIFIFFAMEMVL>K<MVALGI-FGKKCYLGDTWNRLDFFIVMAGM162
CACNA1SPEDDNNSLNLGLEKLEYFFLI-VFSIEAAM>K<IIAYGFLFHQDAYLRSGWNVLDFTIVFLGV134
SCN10A