Paralogue Annotation for CACNA1C residue 196

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 196
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 196

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN191KDravet syndromeHigh9 18930999
SCN1AN191YDravet syndromeHigh9 18930999, 20522430

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.



CACNA1CLI-IFTVEAFLKVIAYGLLFHPNAYLRNGW>N<LLDFIIVVVGLFSAILEQATKA-DGANALG225
CACNA1AIG-IFCFEAGIKIIALGFAFHKGSYLRNGW>N<VMDFVVVLTGILATVGTEF-----------189
CACNA1BIG-IFCFEAGIKIIALGFVFHKGSYLRNGW>N<VMDFVVVLTGILATAGTDF-----------186
CACNA1DLI-IFTVETFLKIIAYGLLLHPNAYVRNGW>N<LLDFVIVIVGLFSVILEQLTKETEGGNHSS228
CACNA1EIG-IFCFEAGIKIVALGFIFHKGSYLRNGW>N<VMDFIVVLSGILATAGTHFN----------181
CACNA1FLV-IFTVETVLKIVAYGLVLHPSAYIRNGW>N<LLDFIIVVVGLFSVLLEQGPGRPGDAPHTG194
CACNA1GIFAFFAVEMVVKMVALGI-FGKKCYLGDTW>N<RLDFFIVIAGMLEYSLDLQ-----------172
CACNA1HIFAFFAVEMVIKMVALGL-FGQKCYLGDTW>N<RLDFFIVVAGMMEYSLDGH-----------191
CACNA1IIFIFFAMEMVLKMVALGI-FGKKCYLGDTW>N<RLDFFIVMAGMVEYSLDLQ-----------170
CACNA1SLI-VFSIEAAMKIIAYGFLFHQDAYLRSGW>N<VLDFTIVFLGVFTVILEQVNVIQSHTAPMS153
SCN10ATV-IYTFEALIKILARGFCLNEFTYLRDPW>N<WLDFSVITLAYVGTAIDLR-----------209
SCN11ATG-IYIFEALIKILARGFILDEFSFLRDPW>N<WLDSIVIGIAIVSYIPGIT-----------215
SCN1ATG-IYTFESLIKIIARGFCLEDFTFLRDPW>N<WLDFTVITFAYVTEFVDLG-----------210
SCN2ATG-IYTFESLIKILARGFCLEDFTFLRDPW>N<WLDFTVITFAYVTEFVDLG-----------211
SCN3ATG-IYTFESLIKILARGFCLEDFTFLRDPW>N<WLDFSVIVMAYVTEFVDLG-----------210
SCN4ATG-IYTFESLIKILARGFCVDDFTFLRDPW>N<WLDFSVIMMAYLTEFVDLG-----------213
SCN5ATA-IYTFESLVKILARGFCLHAFTFLRDPW>N<WLDFSVIIMAYVSENIKLG-----------213
SCN7ALG-IYTFEILVKLFARGVWAGSFSFLGDPW>N<WLDFSVTVFEVIIRYSPLD-----------200
SCN8ATG-IYTFESLVKIIARGFCIDGFTFLRDPW>N<WLDFSVIMMAYITEFVNLG-----------214
SCN9ATG-IYTFESLVKILARGFCVGEFTFLRDPW>N<WLDFVVIVFAYLTEFVNLG-----------208
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 196 for CACNA1C.