Paralogue Annotation for CACNA1C residue 592

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 592
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 592

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AD785NBrugada syndromeHigh9 24581105

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.



CACNA1CALLALFTAEMLLKMYSLGLQAYFVSLFNRF>D<CFVVCGGILETILVETKIMSPLGISVLRCV622
CACNA1AIFLGLFMSEMFIKMYGLGTRPYFHSSFNCF>D<CGVIIGSIFEVIWAVIKPGTSFGISVLRAL585
CACNA1BVFLGLFLTEMSLKMYGLGPRSYFRSSFNCF>D<FGVIVGSVFEVVWAAIKPGSSFGISVLRAL581
CACNA1DVLLALFTCEMLVKMYSLGLQAYFVSLFNRF>D<CFVVCGGITETILVELEIMSPLGISVFRCV641
CACNA1ELFLGLFLLEMSLKMYGMGPRLYFHSSFNCF>D<FGVTVGSIFEVVWAIFRPGTSFGISVLRAL574
CACNA1FVLLCLFTVEMLLKLYGLGPSAYVSSFFNRF>D<CFVVCGGILETTLVEVGAMQPLGISVLRCV627
CACNA1GVFTSLFALEMLLKLLVYGPFGYIKNPYNIF>D<GVIVVISVWEIVGQQGG-----GLSVLRTF836
CACNA1HVFTSMFALEMLLKLLACGPLGYIRNPYNIF>D<GIIVVISVWEIVGQADG-----GLSVLRTF886
CACNA1IVFTSMFALEMILKLAAFGLFDYLRNPYNIF>D<SIIVIISIWEIVGQADG-----GLSVLRTF733
CACNA1SVLLSLFTTEMLMKMYGLGLRQYFMSIFNRF>D<CFVVCSGILEILLVESGAMTPLGISVLRCI530
SCN10AVFTIFFTAEMVFKIIAFDPYYYFQKKWNIF>D<CIIVTVSLLELGVAKKG-----SLSVLRSF758
SCN11AVFTSIFIAEMCLKIIALDPYHYFRRGWNIF>D<SIVALLSFADVMNCVLQKR---SWPFLRSF672
SCN1AVFTGIFTAEMFLKIIAMDPYYYFQEGWNIF>D<GFIVTLSLVELGLANVE-----GLSVLRSF861
SCN2AVFTGIFTAEMFLKIIAMDPYYYFQEGWNIF>D<GFIVSLSLMELGLANVE-----GLSVLRSF852
SCN3AVFTGIFTAEMVLKIIAMDPYYYFQEGWNIF>D<GIIVSLSLMELGLSNVE-----GLSVLRSF853
SCN4AVFTGIFTAEMVLKLIAMDPYEYFQQGWNIF>D<SIIVTLSLVELGLANVQ-----GLSVLRSF671
SCN5AVFTGIFTAEMTFKIIALDPYYYFQQGWNIF>D<SIIVILSLMELGLSRMS-----NLSVLRSF810
SCN7AVFIGIFTAEMIFKIIAMHPYGYFQVGWNIF>D<SMIVFHGLIELCLANVA-----GMALLRLF598
SCN8AVFTGIFTAEMFLKLIAMDPYYYFQEGWNIF>D<GFIVSLSLMELSLADVE-----GLSVLRSF846
SCN9AVFTGIFAAEMVLKLIAMDPYEYFQVGWNIF>D<SLIVTLSLVELFLADVE-----GLSVLRSF826
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 592 for CACNA1C.