Paralogue Annotation for CACNA1C residue 192

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 192
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 192

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AR190QLong QT syndromeHigh9 17905336, 21908450
SCN5AR190GLong QT syndromeHigh9 15176425, 22402334
SCN2AR188WFebrile and afebrile seizuresHigh9 11371648, 15301839
SCN9AR185HSmall fibre neuropathyHigh9 21698661, 22035805, 22826602, 23895530, 24817410

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.



CACNA1CEYLFLI-IFTVEAFLKVIAYGLLFHPNAYL>R<NGWNLLDFIIVVVGLFSAILEQATKA-DGA221
CACNA1AEPYFIG-IFCFEAGIKIIALGFAFHKGSYL>R<NGWNVMDFVVVLTGILATVGTEF-------189
CACNA1BEPYFIG-IFCFEAGIKIIALGFVFHKGSYL>R<NGWNVMDFVVVLTGILATAGTDF-------186
CACNA1DEYAFLI-IFTVETFLKIIAYGLLLHPNAYV>R<NGWNLLDFVIVIVGLFSVILEQLTKETEGG224
CACNA1EEPYFIG-IFCFEAGIKIVALGFIFHKGSYL>R<NGWNVMDFIVVLSGILATAGTHFN------181
CACNA1FEYVFLV-IFTVETVLKIVAYGLVLHPSAYI>R<NGWNLLDFIIVVVGLFSVLLEQGPGRPGDA190
CACNA1GFDDFIFAFFAVEMVVKMVALGI-FGKKCYL>G<DTWNRLDFFIVIAGMLEYSLDLQ-------172
CACNA1HFDAFIFAFFAVEMVIKMVALGL-FGQKCYL>G<DTWNRLDFFIVVAGMMEYSLDGH-------191
CACNA1IFDDFIFIFFAMEMVLKMVALGI-FGKKCYL>G<DTWNRLDFFIVMAGMVEYSLDLQ-------170
CACNA1SEYFFLI-VFSIEAAMKIIAYGFLFHQDAYL>R<SGWNVLDFTIVFLGVFTVILEQVNVIQSHT149
SCN10AEYVFTV-IYTFEALIKILARGFCLNEFTYL>R<DPWNWLDFSVITLAYVGTAIDLR-------209
SCN11AECVFTG-IYIFEALIKILARGFILDEFSFL>R<DPWNWLDSIVIGIAIVSYIPGIT-------215
SCN1AEYTFTG-IYTFESLIKIIARGFCLEDFTFL>R<DPWNWLDFTVITFAYVTEFVDLG-------210
SCN2AEYTFTG-IYTFESLIKILARGFCLEDFTFL>R<DPWNWLDFTVITFAYVTEFVDLG-------211
SCN3AEYTFTG-IYTFESLIKILARGFCLEDFTFL>R<DPWNWLDFSVIVMAYVTEFVDLG-------210
SCN4AEYTFTG-IYTFESLIKILARGFCVDDFTFL>R<DPWNWLDFSVIMMAYLTEFVDLG-------213
SCN5AEYTFTA-IYTFESLVKILARGFCLHAFTFL>R<DPWNWLDFSVIIMAYVSENIKLG-------213
SCN7AENTLLG-IYTFEILVKLFARGVWAGSFSFL>G<DPWNWLDFSVTVFEVIIRYSPLD-------200
SCN8AEYTFTG-IYTFESLVKIIARGFCIDGFTFL>R<DPWNWLDFSVIMMAYITEFVNLG-------214
SCN9AEYTFTG-IYTFESLVKILARGFCVGEFTFL>R<DPWNWLDFVVIVFAYLTEFVNLG-------208
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R192Cc.574C>T Putative BenignSIFT:
Polyphen: