Paralogue Annotation for CACNA1C residue 1460

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1460
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1460

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1770NEpilepsy ?Medium9 21426328
SCN1AI1770TDravet syndrome B ?Medium9 21248271
SCN10AI1706VSmall fibre neuropathyMedium9 23986244

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.



CACNA1CESEP-SNSTEGETP--CGS-SFAVFYFISF>Y<MLCAFLIINLFVAVIMDNFDYLTRDWSI-L1489
CACNA1ANSGIL-----T-R--ECGN-EFAYFYFVSF>I<FLCSFLMLNLFVAVIMDNFEYLTRDSSI-L1824
CACNA1B---Q------A-NATECGS-DFAYFYFVSF>I<FLCSFLMLNLFVAVIMDNFEYLTRDSSI-L1722
CACNA1DESDY--NPGE-EYT--CGS-NFAIVYFISF>Y<MLCAFLIINLFVAVIMDNFDYLTRDWSI-L1497
CACNA1EDTTAPSGQNEN-E--RCGT-DLAYVYFVSF>I<FFCSFLMLNLFVAVIMDNFEYLTRDSSI-L1736
CACNA1FESDF--GPGE-EFT--CGS-NFAIAYFISF>F<MLCAFLIINLFVAVIMDNFDYLTRDWSI-L1454
CACNA1GEST-----C-------YNT-VISPIYFVSF>V<LTAQFVLVNVVIAVLMKHLEESNKEAKE--1863
CACNA1HEDKH----C---LS--YLP-ALSPVYFVTF>V<LVAQFVLVNVVVAVLMKHLEESNKEARE--1872
CACNA1IDERS----C---LS--SLQ-FVSPLYFVSF>V<LTAQFVLINVVVAVLMKHLDDSNKEAQE--1742
CACNA1SESDY--APGE-EYT--CGT-NFAYYYFISF>Y<MLCAFLVINLFVAVIMDNFDYLTRDWSI-L1394
SCN10ANLPN-S-NGTRGD---CGSPAVGIIFFTTY>I<IISFLIMVNMYIAVILENFNVATEESTEPL1736
SCN11A--------SSSEN---CHLPGIATSYFVSY>I<IISFLIVVNMYIAVILENFNTATEESEDPL1618
SCN1ANKVN-PGSSVKGD---CGNPSVGIFFFVSY>I<IISFLVVVNMYIAVILENFSVATEESAEPL1800
SCN2ADKDH-PGSSVKGD---CGNPSVGIFFFVSY>I<IISFLVVVNMYIAVILENFSVATEESAEPL1790
SCN3ADTIH-PGSSVKGD---CGNPSVGIFFFVSY>I<IISFLVVVNMYIAVILENFSVATEESAEPL1785
SCN4ANLEN-PGTSVKGD---CGNPSIGICFFCSY>I<IISFLIVVNMYIAIILENFNVATEESSEPL1612
SCN5ATLPN-S-NGSRGD---CGSPAVGILFFTTY>I<IISFLIVVNMYIAIILENFSVATEESTEPL1786
SCN7ADKIN-PGTQVRGD---CGNPSVGIFYFVSY>I<LISWLIIVNMYIVVVMEFLNIASKKKNKTL1510
SCN8ADKEH-PGSGFKGD---CGNPSVGIFFFVSY>I<IISFLIVVNMYIAIILENFSVATEESADPL1780
SCN9AKKVH-PGSSVEGD---CGNPSVGIFYFVSY>I<IISFLVVVNMYIAVILENFSVATEESTEPL1763
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1460 for CACNA1C.