Paralogue Annotation for CACNA1C residue 535

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 535
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 535

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV728IBrugada syndromeMedium9 22984773

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.



CACNA1CYWRRWNRFCRRKCRAAVKSNVFYWLVIFLV>F<LNTLTIASEHYNQPNWLTEVQDTANKALLA565
CACNA1AFFHKKERRMRFYIRRMVKTQAFYWTVLSLV>A<LNTLCVAIVHYNQPEWLSDFLYYAEFIFLG528
CACNA1BYFRRKEKMFRFFIRRMVKAQSFYWVVLCVV>A<LNTLCVAMVHYNQPRRLTTTLYFAEFVFLG524
CACNA1DRWRRWNRFNRRRCRAAVKSVTFYWLVIVLV>F<LNTLTISSEHYNQPDWLTQIQDIANKVLLA584
CACNA1EYFRHKERLLRISIRHMVKSQVFYWIVLSLV>A<LNTACVAIVHHNQPQWLTHLLYYAEFLFLG517
CACNA1FRLRRANRVLRARCRRAVKSNACYWAVLLLV>F<LNTLTIASEHHGQPVWLTQIQEYANKVLLC570
CACNA1GSVLAFWRLICDTFRKIVDSKYFGRGIMIAI>L<VNTLSMGIEYHEQPEELTNALEISNIVFTS784
CACNA1HWMGRLWVTFSGKLRRIVDSKYFSRGIMMAI>L<VNTLSMGVEYHEQPEELTNALEISNIVFTS834
CACNA1ILCGDVWRETRAKLRGIVDSKYFNRGIMMAI>L<VNTVSMGIEHHEQPEELTNILEICNVVFTS681
CACNA1SHWRQWNRIFRWKCHDIVKSKVFYWLVILIV>A<LNTLSIASEHHNQPLWLTRLQDIANRVLLS473
SCN10ADCCPMWVKLKTILFGLVTDPFAELTITLCI>V<VNTIFMAMEHHGMSPTFEAMLQIGNIVFTI706
SCN11ANCCPQWLCVKKVLRTVMTDPFTELAITICI>I<INTVFLAMEHHKMEASFEKMLNIGNLVFTS618
SCN1ADCSPYWLKVKHVVNLVVMDPFVDLAITICI>V<LNTLFMAMEHYPMTDHFNNVLTVGNLVFTG809
SCN2ADCCKPWLKVKHLVNLVVMDPFVDLAITICI>V<LNTLFMAMEHYPMTEQFSSVLSVGNLVFTG800
SCN3ADCCDAWLKVKHLVNLIVMDPFVDLAITICI>V<LNTLFMAMEHYPMTEQFSSVLTVGNLVFTG801
SCN4ANCCAPWLKFKNIIHLIVMDPFVDLGITICI>V<LNTLFMAMEHYPMTEHFDNVLTVGNLVFTG619
SCN5AECCPLWMSIKQGVKLVVMDPFTDLTITMCI>V<LNTLFMALEHYNMTSEFEEMLQVGNLVFTG758
SCN7ANCSPCWLKLKEFVHRIIMAPFTDLFLIICI>I<LNVCFLTLEHYPMSKQTNTLLNIGNLVFIG546
SCN8AECHPYWIKLKEIVNLIVMDPFVDLAITICI>V<LNTLFMAMEHHPMTPQFEHVLAVGNLVFTG794
SCN9ANCSPYWIKFKKCIYFIVMDPFVDLAITICI>V<LNTLFMAMEHHPMTEEFKNVLAIGNLVFTG774
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 535 for CACNA1C.