Paralogue Annotation for CACNA1C residue 187

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 187
Reference Amino Acid: P - Proline
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 187

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AA185TLong QT syndromeMedium9 15176425, 26332594
SCN5AA185VBrugada syndromeMedium9 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.



CACNA1CNLERVEYLFLI-IFTVEAFLKVIAYGLLFH>P<NAYLRNGWNLLDFIIVVVGLFSAILEQATK217
CACNA1ARLDDTEPYFIG-IFCFEAGIKIIALGFAFH>K<GSYLRNGWNVMDFVVVLTGILATVGTEF--189
CACNA1BRLDDTEPYFIG-IFCFEAGIKIIALGFVFH>K<GSYLRNGWNVMDFVVVLTGILATAGTDF--186
CACNA1DNLEKVEYAFLI-IFTVETFLKIIAYGLLLH>P<NAYVRNGWNLLDFVIVIVGLFSVILEQLTK219
CACNA1ERLEKTEPYFIG-IFCFEAGIKIVALGFIFH>K<GSYLRNGWNVMDFIVVLSGILATAGTHFN-181
CACNA1FNLEQVEYVFLV-IFTVETVLKIVAYGLVLH>P<SAYIRNGWNLLDFIIVVVGLFSVLLEQGPG185
CACNA1GRILQAFDDFIFAFFAVEMVVKMVALGI-FG>K<KCYLGDTWNRLDFFIVIAGMLEYSLDLQ--172
CACNA1HNILEAFDAFIFAFFAVEMVIKMVALGL-FG>Q<KCYLGDTWNRLDFFIVVAGMMEYSLDGH--191
CACNA1IKILQVFDDFIFIFFAMEMVLKMVALGI-FG>K<KCYLGDTWNRLDFFIVMAGMVEYSLDLQ--170
CACNA1SGLEKLEYFFLI-VFSIEAAMKIIAYGFLFH>Q<DAYLRSGWNVLDFTIVFLGVFTVILEQVNV144
SCN10A---KIEYVFTV-IYTFEALIKILARGFCLN>E<FTYLRDPWNWLDFSVITLAYVGTAIDLR--209
SCN11A--DIAECVFTG-IYIFEALIKILARGFILD>E<FSFLRDPWNWLDSIVIGIAIVSYIPGIT--215
SCN1A--KNVEYTFTG-IYTFESLIKIIARGFCLE>D<FTFLRDPWNWLDFTVITFAYVTEFVDLG--210
SCN2A--KNVEYTFTG-IYTFESLIKILARGFCLE>D<FTFLRDPWNWLDFTVITFAYVTEFVDLG--211
SCN3A--KNVEYTFTG-IYTFESLIKILARGFCLE>D<FTFLRDPWNWLDFSVIVMAYVTEFVDLG--210
SCN4A--KNVEYTFTG-IYTFESLIKILARGFCVD>D<FTFLRDPWNWLDFSVIMMAYLTEFVDLG--213
SCN5A--KYVEYTFTA-IYTFESLVKILARGFCLH>A<FTFLRDPWNWLDFSVIIMAYVSENIKLG--213
SCN7A--PVLENTLLG-IYTFEILVKLFARGVWAG>S<FSFLGDPWNWLDFSVTVFEVIIRYSPLD--200
SCN8A--KNVEYTFTG-IYTFESLVKIIARGFCID>G<FTFLRDPWNWLDFSVIMMAYITEFVNLG--214
SCN9A--KNVEYTFTG-IYTFESLVKILARGFCVG>E<FTFLRDPWNWLDFVVIVFAYLTEFVNLG--208
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P187Sc.559C>T Putative BenignSIFT:
Polyphen: