Paralogue Annotation for CACNA1C residue 1451

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1451
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1451

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1747MLong QT syndromeMedium9 20541041
SCN10AV1697IBrugada syndromeMedium9 24998131

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.



CACNA1CPG--KKCAPESEP-SNSTEGETP--CGS-S>F<AVFYFISFYMLCAFLIINLFVAVIMDNFDY1481
CACNA1ASG--KPCDKNSGIL-----T-R--ECGN-E>F<AYFYFVSFIFLCSFLMLNLFVAVIMDNFEY1816
CACNA1BSN--QACDE---Q------A-NATECGS-D>F<AYFYFVSFIFLCSFLMLNLFVAVIMDNFEY1714
CACNA1DPG--KLCDPESDY--NPGE-EYT--CGS-N>F<AIVYFISFYMLCAFLIINLFVAVIMDNFDY1489
CACNA1EGE--KGCEPDTTAPSGQNEN-E--RCGT-D>L<AYVYFVSFIFFCSFLMLNLFVAVIMDNFEY1728
CACNA1FPG--NRCDPESDF--GPGE-EFT--CGS-N>F<AIAYFISFFMLCAFLIINLFVAVIMDNFDY1446
CACNA1GRD----CDQEST-----C-------YNT-V>I<SPIYFVSFVLTAQFVLVNVVIAVLMKHLEE1856
CACNA1HRE----CSREDKH----C---LS--YLP-A>L<SPVYFVTFVLVAQFVLVNVVVAVLMKHLEE1865
CACNA1IRD----CTHDERS----C---LS--SLQ-F>V<SPLYFVSFVLTAQFVLINVVVAVLMKHLDD1735
CACNA1SYG--KLCDPESDY--APGE-EYT--CGT-N>F<AYYYFISFYMLCAFLVINLFVAVIMDNFDY1386
SCN10ANTGPPYCDPNLPN-S-NGTRGD---CGSPA>V<GIIFFTTYIIISFLIMVNMYIAVILENFNV1727
SCN11ARSKES-CN---------SSSEN---CHLPG>I<ATSYFVSYIIISFLIVVNMYIAVILENFNT1609
SCN1ANSKPPDCDPNKVN-PGSSVKGD---CGNPS>V<GIFFFVSYIIISFLVVVNMYIAVILENFSV1791
SCN2ANSGPPDCDPDKDH-PGSSVKGD---CGNPS>V<GIFFFVSYIIISFLVVVNMYIAVILENFSV1781
SCN3ANSAPPDCDPDTIH-PGSSVKGD---CGNPS>V<GIFFFVSYIIISFLVVVNMYIAVILENFSV1776
SCN4ANSGPPDCDPNLEN-PGTSVKGD---CGNPS>I<GICFFCSYIIISFLIVVNMYIAIILENFNV1603
SCN5ANTGPPYCDPTLPN-S-NGSRGD---CGSPA>V<GILFFTTYIIISFLIVVNMYIAIILENFSV1777
SCN7ANSKWSDCDPDKIN-PGTQVRGD---CGNPS>V<GIFYFVSYILISWLIIVNMYIVVVMEFLNI1501
SCN8AN-RPPDCSLDKEH-PGSGFKGD---CGNPS>V<GIFFFVSYIIISFLIVVNMYIAIILENFSV1771
SCN9ANSKPPDCDPKKVH-PGSSVEGD---CGNPS>V<GIFYFVSYIIISFLVVVNMYIAVILENFSV1754
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1451 for CACNA1C.