Paralogue Annotation for CACNA1C residue 1452

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1452
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1452

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1762EMyoclonic epilepsy of infancyMedium9 17054684
SCN1AG1762GFebrile seizures ?Medium9 20452746
SCN5AG1748DBrugada syndromeMedium9 23085483

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.



CACNA1CG--KKCAPESEP-SNSTEGETP--CGS-SF>A<VFYFISFYMLCAFLIINLFVAVIMDNFDYL1482
CACNA1AG--KPCDKNSGIL-----T-R--ECGN-EF>A<YFYFVSFIFLCSFLMLNLFVAVIMDNFEYL1817
CACNA1BN--QACDE---Q------A-NATECGS-DF>A<YFYFVSFIFLCSFLMLNLFVAVIMDNFEYL1715
CACNA1DG--KLCDPESDY--NPGE-EYT--CGS-NF>A<IVYFISFYMLCAFLIINLFVAVIMDNFDYL1490
CACNA1EE--KGCEPDTTAPSGQNEN-E--RCGT-DL>A<YVYFVSFIFFCSFLMLNLFVAVIMDNFEYL1729
CACNA1FG--NRCDPESDF--GPGE-EFT--CGS-NF>A<IAYFISFFMLCAFLIINLFVAVIMDNFDYL1447
CACNA1GD----CDQEST-----C-------YNT-VI>S<PIYFVSFVLTAQFVLVNVVIAVLMKHLEES1857
CACNA1HE----CSREDKH----C---LS--YLP-AL>S<PVYFVTFVLVAQFVLVNVVVAVLMKHLEES1866
CACNA1ID----CTHDERS----C---LS--SLQ-FV>S<PLYFVSFVLTAQFVLINVVVAVLMKHLDDS1736
CACNA1SG--KLCDPESDY--APGE-EYT--CGT-NF>A<YYYFISFYMLCAFLVINLFVAVIMDNFDYL1387
SCN10ATGPPYCDPNLPN-S-NGTRGD---CGSPAV>G<IIFFTTYIIISFLIMVNMYIAVILENFNVA1728
SCN11ASKES-CN---------SSSEN---CHLPGI>A<TSYFVSYIIISFLIVVNMYIAVILENFNTA1610
SCN1ASKPPDCDPNKVN-PGSSVKGD---CGNPSV>G<IFFFVSYIIISFLVVVNMYIAVILENFSVA1792
SCN2ASGPPDCDPDKDH-PGSSVKGD---CGNPSV>G<IFFFVSYIIISFLVVVNMYIAVILENFSVA1782
SCN3ASAPPDCDPDTIH-PGSSVKGD---CGNPSV>G<IFFFVSYIIISFLVVVNMYIAVILENFSVA1777
SCN4ASGPPDCDPNLEN-PGTSVKGD---CGNPSI>G<ICFFCSYIIISFLIVVNMYIAIILENFNVA1604
SCN5ATGPPYCDPTLPN-S-NGSRGD---CGSPAV>G<ILFFTTYIIISFLIVVNMYIAIILENFSVA1778
SCN7ASKWSDCDPDKIN-PGTQVRGD---CGNPSV>G<IFYFVSYILISWLIIVNMYIVVVMEFLNIA1502
SCN8A-RPPDCSLDKEH-PGSGFKGD---CGNPSV>G<IFFFVSYIIISFLIVVNMYIAIILENFSVA1772
SCN9ASKPPDCDPKKVH-PGSSVEGD---CGNPSV>G<IFYFVSYIIISFLVVVNMYIAVILENFSVA1755
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1452Sc.4354G>T Putative BenignSIFT:
Polyphen: