Paralogue Annotation for CACNA1C residue 178

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 178
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 178

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI176MLong QT syndromeMedium9 19996378

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.



CACNA1CEDDSNATNSNLERVEYLFLI-IFTVEAFLK>V<IAYGLLFHPNAYLRNGWNLLDFIIVVVGLF208
CACNA1ADDDKTPMSERLDDTEPYFIG-IFCFEAGIK>I<IALGFAFHKGSYLRNGWNVMDFVVVLTGIL182
CACNA1BDGDKTPMSERLDDTEPYFIG-IFCFEAGIK>I<IALGFVFHKGSYLRNGWNVMDFVVVLTGIL179
CACNA1DEDDSNSTNHNLEKVEYAFLI-IFTVETFLK>I<IAYGLLLHPNAYVRNGWNLLDFVIVIVGLF210
CACNA1EEDDKTPMSRRLEKTEPYFIG-IFCFEAGIK>I<VALGFIFHKGSYLRNGWNVMDFIVVLSGIL173
CACNA1FEDDSNTANHNLEQVEYVFLV-IFTVETVLK>I<VAYGLVLHPSAYIRNGWNLLDFIIVVVGLF176
CACNA1GDIACDSQRCRILQAFDDFIFAFFAVEMVVK>M<VALGI-FGKKCYLGDTWNRLDFFIVIAGML165
CACNA1HDVECGSERCNILEAFDAFIFAFFAVEMVIK>M<VALGL-FGQKCYLGDTWNRLDFFIVVAGMM184
CACNA1IDMDCLSDRCKILQVFDDFIFIFFAMEMVLK>M<VALGI-FGKKCYLGDTWNRLDFFIVMAGMV163
CACNA1SEDDNNSLNLGLEKLEYFFLI-VFSIEAAMK>I<IAYGFLFHQDAYLRSGWNVLDFTIVFLGVF135
SCN10A--D-LPE-----KIEYVFTV-IYTFEALIK>I<LARGFCLNEFTYLRDPWNWLDFSVITLAYV202
SCN11A--NSNSNNT--DIAECVFTG-IYIFEALIK>I<LARGFILDEFSFLRDPWNWLDSIVIGIAIV208
SCN1A--N-PPDWT--KNVEYTFTG-IYTFESLIK>I<IARGFCLEDFTFLRDPWNWLDFTVITFAYV203
SCN2A--N-PPDWT--KNVEYTFTG-IYTFESLIK>I<LARGFCLEDFTFLRDPWNWLDFTVITFAYV204
SCN3A--N-PPDWT--KNVEYTFTG-IYTFESLIK>I<LARGFCLEDFTFLRDPWNWLDFSVIVMAYV203
SCN4A--D-PPPWS--KNVEYTFTG-IYTFESLIK>I<LARGFCVDDFTFLRDPWNWLDFSVIMMAYL206
SCN5A--D-PPPWT--KYVEYTFTA-IYTFESLVK>I<LARGFCLHAFTFLRDPWNWLDFSVIIMAYV206
SCN7A--N-LPKWR--PVLENTLLG-IYTFEILVK>L<FARGVWAGSFSFLGDPWNWLDFSVTVFEVI193
SCN8A--N-PPDWS--KNVEYTFTG-IYTFESLVK>I<IARGFCIDGFTFLRDPWNWLDFSVIMMAYI207
SCN9A--N-PPDWT--KNVEYTFTG-IYTFESLVK>I<LARGFCVGEFTFLRDPWNWLDFVVIVFAYL201
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 178 for CACNA1C.