Paralogue Annotation for CACNA1C residue 1449

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1449
Reference Amino Acid: S - Serine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1449

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1ST1354SMalignant hyperthermiaMedium5 20861472, 24055113, 24195946, 20861472, 24784157, 25637381, 25735680, 27153395, 26332594

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.



CACNA1CACMPG--KKCAPESEP-SNSTEGETP--CG>S<-SFAVFYFISFYMLCAFLIINLFVAVIMDN1478
CACNA1ASCLSG--KPCDKNSGIL-----T-R--ECG>N<-EFAYFYFVSFIFLCSFLMLNLFVAVIMDN1813
CACNA1BSCLSN--QACDE---Q------A-NATECG>S<-DFAYFYFVSFIFLCSFLMLNLFVAVIMDN1711
CACNA1DACLPG--KLCDPESDY--NPGE-EYT--CG>S<-NFAIVYFISFYMLCAFLIINLFVAVIMDN1486
CACNA1ESCLGE--KGCEPDTTAPSGQNEN-E--RCG>T<-DLAYVYFVSFIFFCSFLMLNLFVAVIMDN1725
CACNA1FASLPG--NRCDPESDF--GPGE-EFT--CG>S<-NFAIAYFISFFMLCAFLIINLFVAVIMDN1443
CACNA1GDTLRD----CDQEST-----C-------YN>T<-VISPIYFVSFVLTAQFVLVNVVIAVLMKH1853
CACNA1HDTLRE----CSREDKH----C---LS--YL>P<-ALSPVYFVTFVLVAQFVLVNVVVAVLMKH1862
CACNA1IDTLRD----CTHDERS----C---LS--SL>Q<-FVSPLYFVSFVLTAQFVLINVVVAVLMKH1732
CACNA1SACSYG--KLCDPESDY--APGE-EYT--CG>T<-NFAYYYFISFYMLCAFLVINLFVAVIMDN1383
SCN10APILNTGPPYCDPNLPN-S-NGTRGD---CG>S<PAVGIIFFTTYIIISFLIMVNMYIAVILEN1724
SCN11APMLRSKES-CN---------SSSEN---CH>L<PGIATSYFVSYIIISFLIVVNMYIAVILEN1606
SCN1APILNSKPPDCDPNKVN-PGSSVKGD---CG>N<PSVGIFFFVSYIIISFLVVVNMYIAVILEN1788
SCN2APILNSGPPDCDPDKDH-PGSSVKGD---CG>N<PSVGIFFFVSYIIISFLVVVNMYIAVILEN1778
SCN3APILNSAPPDCDPDTIH-PGSSVKGD---CG>N<PSVGIFFFVSYIIISFLVVVNMYIAVILEN1773
SCN4APILNSGPPDCDPNLEN-PGTSVKGD---CG>N<PSIGICFFCSYIIISFLIVVNMYIAIILEN1600
SCN5APILNTGPPYCDPTLPN-S-NGSRGD---CG>S<PAVGILFFTTYIIISFLIVVNMYIAIILEN1774
SCN7AAIFNSKWSDCDPDKIN-PGTQVRGD---CG>N<PSVGIFYFVSYILISWLIIVNMYIVVVMEF1498
SCN8APILN-RPPDCSLDKEH-PGSGFKGD---CG>N<PSVGIFFFVSYIIISFLIVVNMYIAIILEN1768
SCN9APILNSKPPDCDPKKVH-PGSSVEGD---CG>N<PSVGIFYFVSYIIISFLVVVNMYIAVILEN1751
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1449 for CACNA1C.