Paralogue Annotation for CACNA1C residue 1455

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1455
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1455

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1765LPartial epilepsy with febrile seizures plusMedium9 20550552
CACNA1FY1420CNight blindness, congenital stationary, incompleteHigh9 25307992

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.



CACNA1CKKCAPESEP-SNSTEGETP--CGS-SFAVF>Y<FISFYMLCAFLIINLFVAVIMDNFDYLTRD1485
CACNA1AKPCDKNSGIL-----T-R--ECGN-EFAYF>Y<FVSFIFLCSFLMLNLFVAVIMDNFEYLTRD1820
CACNA1BQACDE---Q------A-NATECGS-DFAYF>Y<FVSFIFLCSFLMLNLFVAVIMDNFEYLTRD1718
CACNA1DKLCDPESDY--NPGE-EYT--CGS-NFAIV>Y<FISFYMLCAFLIINLFVAVIMDNFDYLTRD1493
CACNA1EKGCEPDTTAPSGQNEN-E--RCGT-DLAYV>Y<FVSFIFFCSFLMLNLFVAVIMDNFEYLTRD1732
CACNA1FNRCDPESDF--GPGE-EFT--CGS-NFAIA>Y<FISFFMLCAFLIINLFVAVIMDNFDYLTRD1450
CACNA1G--CDQEST-----C-------YNT-VISPI>Y<FVSFVLTAQFVLVNVVIAVLMKHLEESNKE1860
CACNA1H--CSREDKH----C---LS--YLP-ALSPV>Y<FVTFVLVAQFVLVNVVVAVLMKHLEESNKE1869
CACNA1I--CTHDERS----C---LS--SLQ-FVSPL>Y<FVSFVLTAQFVLINVVVAVLMKHLDDSNKE1739
CACNA1SKLCDPESDY--APGE-EYT--CGT-NFAYY>Y<FISFYMLCAFLVINLFVAVIMDNFDYLTRD1390
SCN10APYCDPNLPN-S-NGTRGD---CGSPAVGII>F<FTTYIIISFLIMVNMYIAVILENFNVATEE1731
SCN11AS-CN---------SSSEN---CHLPGIATS>Y<FVSYIIISFLIVVNMYIAVILENFNTATEE1613
SCN1APDCDPNKVN-PGSSVKGD---CGNPSVGIF>F<FVSYIIISFLVVVNMYIAVILENFSVATEE1795
SCN2APDCDPDKDH-PGSSVKGD---CGNPSVGIF>F<FVSYIIISFLVVVNMYIAVILENFSVATEE1785
SCN3APDCDPDTIH-PGSSVKGD---CGNPSVGIF>F<FVSYIIISFLVVVNMYIAVILENFSVATEE1780
SCN4APDCDPNLEN-PGTSVKGD---CGNPSIGIC>F<FCSYIIISFLIVVNMYIAIILENFNVATEE1607
SCN5APYCDPTLPN-S-NGSRGD---CGSPAVGIL>F<FTTYIIISFLIVVNMYIAIILENFSVATEE1781
SCN7ASDCDPDKIN-PGTQVRGD---CGNPSVGIF>Y<FVSYILISWLIIVNMYIVVVMEFLNIASKK1505
SCN8APDCSLDKEH-PGSGFKGD---CGNPSVGIF>F<FVSYIIISFLIVVNMYIAIILENFSVATEE1775
SCN9APDCDPKKVH-PGSSVEGD---CGNPSVGIF>Y<FVSYIIISFLVVVNMYIAVILENFSVATEE1758
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1455 for CACNA1C.