Paralogue Annotation for CACNA1C residue 1465

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1465
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1465

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL1761FLong QT syndromeMedium9 19716085
SCN5AL1761HLong QT syndromeMedium9 19716085

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.



CACNA1CSNSTEGETP--CGS-SFAVFYFISFYMLCA>F<LIINLFVAVIMDNFDYLTRDWSI-LGPHHL1494
CACNA1A-----T-R--ECGN-EFAYFYFVSFIFLCS>F<LMLNLFVAVIMDNFEYLTRDSSI-LGPHHL1829
CACNA1B-----A-NATECGS-DFAYFYFVSFIFLCS>F<LMLNLFVAVIMDNFEYLTRDSSI-LGPHHL1727
CACNA1D-NPGE-EYT--CGS-NFAIVYFISFYMLCA>F<LIINLFVAVIMDNFDYLTRDWSI-LGPHHL1502
CACNA1ESGQNEN-E--RCGT-DLAYVYFVSFIFFCS>F<LMLNLFVAVIMDNFEYLTRDSSI-LGPHHL1741
CACNA1F-GPGE-EFT--CGS-NFAIAYFISFFMLCA>F<LIINLFVAVIMDNFDYLTRDWSI-LGPHHL1459
CACNA1G---C-------YNT-VISPIYFVSFVLTAQ>F<VLVNVVIAVLMKHLEESNKEAKE---EAEL1867
CACNA1H---C---LS--YLP-ALSPVYFVTFVLVAQ>F<VLVNVVVAVLMKHLEESNKEARE---DAEL1876
CACNA1I---C---LS--SLQ-FVSPLYFVSFVLTAQ>F<VLINVVVAVLMKHLDDSNKEAQE---DAEM1746
CACNA1S-APGE-EYT--CGT-NFAYYYFISFYMLCA>F<LVINLFVAVIMDNFDYLTRDWSI-LGPHHL1399
SCN10AS-NGTRGD---CGSPAVGIIFFTTYIIISF>L<IMVNMYIAVILENFNVATEESTEPLSEDDF1741
SCN11A---SSSEN---CHLPGIATSYFVSYIIISF>L<IVVNMYIAVILENFNTATEESEDPLGEDDF1623
SCN1APGSSVKGD---CGNPSVGIFFFVSYIIISF>L<VVVNMYIAVILENFSVATEESAEPLSEDDF1805
SCN2APGSSVKGD---CGNPSVGIFFFVSYIIISF>L<VVVNMYIAVILENFSVATEESAEPLSEDDF1795
SCN3APGSSVKGD---CGNPSVGIFFFVSYIIISF>L<VVVNMYIAVILENFSVATEESAEPLSEDDF1790
SCN4APGTSVKGD---CGNPSIGICFFCSYIIISF>L<IVVNMYIAIILENFNVATEESSEPLGEDDF1617
SCN5AS-NGSRGD---CGSPAVGILFFTTYIIISF>L<IVVNMYIAIILENFSVATEESTEPLSEDDF1791
SCN7APGTQVRGD---CGNPSVGIFYFVSYILISW>L<IIVNMYIVVVMEFLNIASKKKNKTLSEDDF1515
SCN8APGSGFKGD---CGNPSVGIFFFVSYIIISF>L<IVVNMYIAIILENFSVATEESADPLSEDDF1785
SCN9APGSSVEGD---CGNPSVGIFYFVSYIIISF>L<VVVNMYIAVILENFSVATEESTEPLSEDDF1768
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Phe1465Leuc.4393T>C UnknownSIFT:
Polyphen: