Paralogue Annotation for CACNA1C residue 566

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 566
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 566

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI759FLong QT syndromeMedium9 19862833, 24596401

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.



CACNA1CLNTLTIASEHYNQPNWLTEVQDTANKALLA>L<FTAEMLLKMYSLGLQAYFVSLFNRFDCFVV596
CACNA1ALNTLCVAIVHYNQPEWLSDFLYYAEFIFLG>L<FMSEMFIKMYGLGTRPYFHSSFNCFDCGVI559
CACNA1BLNTLCVAMVHYNQPRRLTTTLYFAEFVFLG>L<FLTEMSLKMYGLGPRSYFRSSFNCFDFGVI555
CACNA1DLNTLTISSEHYNQPDWLTQIQDIANKVLLA>L<FTCEMLVKMYSLGLQAYFVSLFNRFDCFVV615
CACNA1ELNTACVAIVHHNQPQWLTHLLYYAEFLFLG>L<FLLEMSLKMYGMGPRLYFHSSFNCFDFGVT548
CACNA1FLNTLTIASEHHGQPVWLTQIQEYANKVLLC>L<FTVEMLLKLYGLGPSAYVSSFFNRFDCFVV601
CACNA1GVNTLSMGIEYHEQPEELTNALEISNIVFTS>L<FALEMLLKLLVYGPFGYIKNPYNIFDGVIV815
CACNA1HVNTLSMGVEYHEQPEELTNALEISNIVFTS>M<FALEMLLKLLACGPLGYIRNPYNIFDGIIV865
CACNA1IVNTVSMGIEHHEQPEELTNILEICNVVFTS>M<FALEMILKLAAFGLFDYLRNPYNIFDSIIV712
CACNA1SLNTLSIASEHHNQPLWLTRLQDIANRVLLS>L<FTTEMLMKMYGLGLRQYFMSIFNRFDCFVV504
SCN10AVNTIFMAMEHHGMSPTFEAMLQIGNIVFTI>F<FTAEMVFKIIAFDPYYYFQKKWNIFDCIIV737
SCN11AINTVFLAMEHHKMEASFEKMLNIGNLVFTS>I<FIAEMCLKIIALDPYHYFRRGWNIFDSIVA649
SCN1ALNTLFMAMEHYPMTDHFNNVLTVGNLVFTG>I<FTAEMFLKIIAMDPYYYFQEGWNIFDGFIV840
SCN2ALNTLFMAMEHYPMTEQFSSVLSVGNLVFTG>I<FTAEMFLKIIAMDPYYYFQEGWNIFDGFIV831
SCN3ALNTLFMAMEHYPMTEQFSSVLTVGNLVFTG>I<FTAEMVLKIIAMDPYYYFQEGWNIFDGIIV832
SCN4ALNTLFMAMEHYPMTEHFDNVLTVGNLVFTG>I<FTAEMVLKLIAMDPYEYFQQGWNIFDSIIV650
SCN5ALNTLFMALEHYNMTSEFEEMLQVGNLVFTG>I<FTAEMTFKIIALDPYYYFQQGWNIFDSIIV789
SCN7ALNVCFLTLEHYPMSKQTNTLLNIGNLVFIG>I<FTAEMIFKIIAMHPYGYFQVGWNIFDSMIV577
SCN8ALNTLFMAMEHHPMTPQFEHVLAVGNLVFTG>I<FTAEMFLKLIAMDPYYYFQEGWNIFDGFIV825
SCN9ALNTLFMAMEHHPMTEEFKNVLAIGNLVFTG>I<FAAEMVLKLIAMDPYEYFQVGWNIFDSLIV805
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 566 for CACNA1C.