Paralogue Annotation for CACNA1C residue 1481

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1481
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1481

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1777MLong QT syndromeMedium9 11463728, 12085742

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.



CACNA1CFAVFYFISFYMLCAFLIINLFVAVIMDNFD>Y<LTRDWSI-LGPHHLDEFKRIWAEYDPEAKG1510
CACNA1AFAYFYFVSFIFLCSFLMLNLFVAVIMDNFE>Y<LTRDSSI-LGPHHLDEYVRVWAEYDPAACG1845
CACNA1BFAYFYFVSFIFLCSFLMLNLFVAVIMDNFE>Y<LTRDSSI-LGPHHLDEFIRVWAEYDPAACG1743
CACNA1DFAIVYFISFYMLCAFLIINLFVAVIMDNFD>Y<LTRDWSI-LGPHHLDEFKRIWSEYDPEAKG1518
CACNA1ELAYVYFVSFIFFCSFLMLNLFVAVIMDNFE>Y<LTRDSSI-LGPHHLDEFVRVWAEYDRAACG1757
CACNA1FFAIAYFISFFMLCAFLIINLFVAVIMDNFD>Y<LTRDWSI-LGPHHLDEFKRIWSEYDPGAKG1475
CACNA1GISPIYFVSFVLTAQFVLVNVVIAVLMKHLE>E<SNKEAKE---EAELEAELELEMKT-LSPQP1882
CACNA1HLSPVYFVTFVLVAQFVLVNVVVAVLMKHLE>E<SNKEARE---DAELDAEIELEMAQGPGSAR1892
CACNA1IVSPLYFVSFVLTAQFVLINVVVAVLMKHLD>D<SNKEAQE---DAEMDAELELEMAHGLGPGP1762
CACNA1SFAYYYFISFYMLCAFLVINLFVAVIMDNFD>Y<LTRDWSI-LGPHHLDEFKAIWAEYDPEAKG1415
SCN10AVGIIFFTTYIIISFLIMVNMYIAVILENFN>V<ATEESTEPLSEDDFDMFYETWEKFDPEATQ1757
SCN11AIATSYFVSYIIISFLIVVNMYIAVILENFN>T<ATEESEDPLGEDDFDIFYEVWEKFDPEATQ1639
SCN1AVGIFFFVSYIIISFLVVVNMYIAVILENFS>V<ATEESAEPLSEDDFEMFYEVWEKFDPDATQ1821
SCN2AVGIFFFVSYIIISFLVVVNMYIAVILENFS>V<ATEESAEPLSEDDFEMFYEVWEKFDPDATQ1811
SCN3AVGIFFFVSYIIISFLVVVNMYIAVILENFS>V<ATEESAEPLSEDDFEMFYEVWEKFDPDATQ1806
SCN4AIGICFFCSYIIISFLIVVNMYIAIILENFN>V<ATEESSEPLGEDDFEMFYETWEKFDPDATQ1633
SCN5AVGILFFTTYIIISFLIVVNMYIAIILENFS>V<ATEESTEPLSEDDFDMFYEIWEKFDPEATQ1807
SCN7AVGIFYFVSYILISWLIIVNMYIVVVMEFLN>I<ASKKKNKTLSEDDFRKFFQVWKRFDPDRTQ1531
SCN8AVGIFFFVSYIIISFLIVVNMYIAIILENFS>V<ATEESADPLSEDDFETFYEIWEKFDPDATQ1801
SCN9AVGIFYFVSYIIISFLVVVNMYIAVILENFS>V<ATEESTEPLSEDDFEMFYEVWEKFDPDATQ1784
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1481 for CACNA1C.