Paralogue Annotation for CACNA1C residue 198

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 198
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 198

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL193FGeneralized epilepsy with febrile seizures plusHigh9 21843600

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.



CACNA1C-IFTVEAFLKVIAYGLLFHPNAYLRNGWNL>L<DFIIVVVGLFSAILEQATKA-DGANALGGK227
CACNA1A-IFCFEAGIKIIALGFAFHKGSYLRNGWNV>M<DFVVVLTGILATVGTEF-------------189
CACNA1B-IFCFEAGIKIIALGFVFHKGSYLRNGWNV>M<DFVVVLTGILATAGTDF-------------186
CACNA1D-IFTVETFLKIIAYGLLLHPNAYVRNGWNL>L<DFVIVIVGLFSVILEQLTKETEGGNHSSGK230
CACNA1E-IFCFEAGIKIVALGFIFHKGSYLRNGWNV>M<DFIVVLSGILATAGTHFN------------181
CACNA1F-IFTVETVLKIVAYGLVLHPSAYIRNGWNL>L<DFIIVVVGLFSVLLEQGPGRPGDAPHTGGK196
CACNA1GAFFAVEMVVKMVALGI-FGKKCYLGDTWNR>L<DFFIVIAGMLEYSLDLQ-------------172
CACNA1HAFFAVEMVIKMVALGL-FGQKCYLGDTWNR>L<DFFIVVAGMMEYSLDGH-------------191
CACNA1IIFFAMEMVLKMVALGI-FGKKCYLGDTWNR>L<DFFIVMAGMVEYSLDLQ-------------170
CACNA1S-VFSIEAAMKIIAYGFLFHQDAYLRSGWNV>L<DFTIVFLGVFTVILEQVNVIQSHTAPMSSK155
SCN10A-IYTFEALIKILARGFCLNEFTYLRDPWNW>L<DFSVITLAYVGTAIDLR-------------209
SCN11A-IYIFEALIKILARGFILDEFSFLRDPWNW>L<DSIVIGIAIVSYIPGIT-------------215
SCN1A-IYTFESLIKIIARGFCLEDFTFLRDPWNW>L<DFTVITFAYVTEFVDLG-------------210
SCN2A-IYTFESLIKILARGFCLEDFTFLRDPWNW>L<DFTVITFAYVTEFVDLG-------------211
SCN3A-IYTFESLIKILARGFCLEDFTFLRDPWNW>L<DFSVIVMAYVTEFVDLG-------------210
SCN4A-IYTFESLIKILARGFCVDDFTFLRDPWNW>L<DFSVIMMAYLTEFVDLG-------------213
SCN5A-IYTFESLVKILARGFCLHAFTFLRDPWNW>L<DFSVIIMAYVSENIKLG-------------213
SCN7A-IYTFEILVKLFARGVWAGSFSFLGDPWNW>L<DFSVTVFEVIIRYSPLD-------------200
SCN8A-IYTFESLVKIIARGFCIDGFTFLRDPWNW>L<DFSVIMMAYITEFVNLG-------------214
SCN9A-IYTFESLVKILARGFCVGEFTFLRDPWNW>L<DFVVIVFAYLTEFVNLG-------------208
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 198 for CACNA1C.