Paralogue Annotation for CACNA1C residue 1450

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1450
Reference Amino Acid: S - Serine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1450

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AA1746TLong QT syndromeMedium7 20541041

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.



CACNA1CMPG--KKCAPESEP-SNSTEGETP--CGS->S<FAVFYFISFYMLCAFLIINLFVAVIMDNFD1480
CACNA1ALSG--KPCDKNSGIL-----T-R--ECGN->E<FAYFYFVSFIFLCSFLMLNLFVAVIMDNFE1815
CACNA1BLSN--QACDE---Q------A-NATECGS->D<FAYFYFVSFIFLCSFLMLNLFVAVIMDNFE1713
CACNA1DLPG--KLCDPESDY--NPGE-EYT--CGS->N<FAIVYFISFYMLCAFLIINLFVAVIMDNFD1488
CACNA1ELGE--KGCEPDTTAPSGQNEN-E--RCGT->D<LAYVYFVSFIFFCSFLMLNLFVAVIMDNFE1727
CACNA1FLPG--NRCDPESDF--GPGE-EFT--CGS->N<FAIAYFISFFMLCAFLIINLFVAVIMDNFD1445
CACNA1GLRD----CDQEST-----C-------YNT->V<ISPIYFVSFVLTAQFVLVNVVIAVLMKHLE1855
CACNA1HLRE----CSREDKH----C---LS--YLP->A<LSPVYFVTFVLVAQFVLVNVVVAVLMKHLE1864
CACNA1ILRD----CTHDERS----C---LS--SLQ->F<VSPLYFVSFVLTAQFVLINVVVAVLMKHLD1734
CACNA1SSYG--KLCDPESDY--APGE-EYT--CGT->N<FAYYYFISFYMLCAFLVINLFVAVIMDNFD1385
SCN10ALNTGPPYCDPNLPN-S-NGTRGD---CGSP>A<VGIIFFTTYIIISFLIMVNMYIAVILENFN1726
SCN11ALRSKES-CN---------SSSEN---CHLP>G<IATSYFVSYIIISFLIVVNMYIAVILENFN1608
SCN1ALNSKPPDCDPNKVN-PGSSVKGD---CGNP>S<VGIFFFVSYIIISFLVVVNMYIAVILENFS1790
SCN2ALNSGPPDCDPDKDH-PGSSVKGD---CGNP>S<VGIFFFVSYIIISFLVVVNMYIAVILENFS1780
SCN3ALNSAPPDCDPDTIH-PGSSVKGD---CGNP>S<VGIFFFVSYIIISFLVVVNMYIAVILENFS1775
SCN4ALNSGPPDCDPNLEN-PGTSVKGD---CGNP>S<IGICFFCSYIIISFLIVVNMYIAIILENFN1602
SCN5ALNTGPPYCDPTLPN-S-NGSRGD---CGSP>A<VGILFFTTYIIISFLIVVNMYIAIILENFS1776
SCN7AFNSKWSDCDPDKIN-PGTQVRGD---CGNP>S<VGIFYFVSYILISWLIIVNMYIVVVMEFLN1500
SCN8ALN-RPPDCSLDKEH-PGSGFKGD---CGNP>S<VGIFFFVSYIIISFLIVVNMYIAIILENFS1770
SCN9ALNSKPPDCDPKKVH-PGSSVEGD---CGNP>S<VGIFYFVSYIIISFLVVVNMYIAVILENFS1753
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1450 for CACNA1C.