Paralogue Annotation for CACNA1C residue 185

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 185
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 185

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HF161LEpilepsy, childhood absenceHigh9 12891677, 14729682

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.



CACNA1CNSNLERVEYLFLI-IFTVEAFLKVIAYGLL>F<HPNAYLRNGWNLLDFIIVVVGLFSAILEQA215
CACNA1ASERLDDTEPYFIG-IFCFEAGIKIIALGFA>F<HKGSYLRNGWNVMDFVVVLTGILATVGTEF189
CACNA1BSERLDDTEPYFIG-IFCFEAGIKIIALGFV>F<HKGSYLRNGWNVMDFVVVLTGILATAGTDF186
CACNA1DNHNLEKVEYAFLI-IFTVETFLKIIAYGLL>L<HPNAYVRNGWNLLDFVIVIVGLFSVILEQL217
CACNA1ESRRLEKTEPYFIG-IFCFEAGIKIVALGFI>F<HKGSYLRNGWNVMDFIVVLSGILATAGTHF180
CACNA1FNHNLEQVEYVFLV-IFTVETVLKIVAYGLV>L<HPSAYIRNGWNLLDFIIVVVGLFSVLLEQG183
CACNA1GRCRILQAFDDFIFAFFAVEMVVKMVALGI->F<GKKCYLGDTWNRLDFFIVIAGMLEYSLDLQ172
CACNA1HRCNILEAFDAFIFAFFAVEMVIKMVALGL->F<GQKCYLGDTWNRLDFFIVVAGMMEYSLDGH191
CACNA1IRCKILQVFDDFIFIFFAMEMVLKMVALGI->F<GKKCYLGDTWNRLDFFIVMAGMVEYSLDLQ170
CACNA1SNLGLEKLEYFFLI-VFSIEAAMKIIAYGFL>F<HQDAYLRSGWNVLDFTIVFLGVFTVILEQV142
SCN10A-----KIEYVFTV-IYTFEALIKILARGFC>L<NEFTYLRDPWNWLDFSVITLAYVGTAIDLR209
SCN11ANT--DIAECVFTG-IYIFEALIKILARGFI>L<DEFSFLRDPWNWLDSIVIGIAIVSYIPGIT215
SCN1AWT--KNVEYTFTG-IYTFESLIKIIARGFC>L<EDFTFLRDPWNWLDFTVITFAYVTEFVDLG210
SCN2AWT--KNVEYTFTG-IYTFESLIKILARGFC>L<EDFTFLRDPWNWLDFTVITFAYVTEFVDLG211
SCN3AWT--KNVEYTFTG-IYTFESLIKILARGFC>L<EDFTFLRDPWNWLDFSVIVMAYVTEFVDLG210
SCN4AWS--KNVEYTFTG-IYTFESLIKILARGFC>V<DDFTFLRDPWNWLDFSVIMMAYLTEFVDLG213
SCN5AWT--KYVEYTFTA-IYTFESLVKILARGFC>L<HAFTFLRDPWNWLDFSVIIMAYVSENIKLG213
SCN7AWR--PVLENTLLG-IYTFEILVKLFARGVW>A<GSFSFLGDPWNWLDFSVTVFEVIIRYSPLD200
SCN8AWS--KNVEYTFTG-IYTFESLVKIIARGFC>I<DGFTFLRDPWNWLDFSVIMMAYITEFVNLG214
SCN9AWT--KNVEYTFTG-IYTFESLVKILARGFC>V<GEFTFLRDPWNWLDFVVIVFAYLTEFVNLG208
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 185 for CACNA1C.