Paralogue Annotation for CACNA1C residue 596

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 596
Reference Amino Acid: V - Valine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 596

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV789IBrugada syndromeHigh6 20129283

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.



CACNA1CLFTAEMLLKMYSLGLQAYFVSLFNRFDCFV>V<CGGILETILVETKIMSPLGISVLRCVRLLR626
CACNA1ALFMSEMFIKMYGLGTRPYFHSSFNCFDCGV>I<IGSIFEVIWAVIKPGTSFGISVLRALRLLR589
CACNA1BLFLTEMSLKMYGLGPRSYFRSSFNCFDFGV>I<VGSVFEVVWAAIKPGSSFGISVLRALRLLR585
CACNA1DLFTCEMLVKMYSLGLQAYFVSLFNRFDCFV>V<CGGITETILVELEIMSPLGISVFRCVRLLR645
CACNA1ELFLLEMSLKMYGMGPRLYFHSSFNCFDFGV>T<VGSIFEVVWAIFRPGTSFGISVLRALRLLR578
CACNA1FLFTVEMLLKLYGLGPSAYVSSFFNRFDCFV>V<CGGILETTLVEVGAMQPLGISVLRCVRLLR631
CACNA1GLFALEMLLKLLVYGPFGYIKNPYNIFDGVI>V<VISVWEIVGQQGG-----GLSVLRTFRLMR840
CACNA1HMFALEMLLKLLACGPLGYIRNPYNIFDGII>V<VISVWEIVGQADG-----GLSVLRTFRLLR890
CACNA1IMFALEMILKLAAFGLFDYLRNPYNIFDSII>V<IISIWEIVGQADG-----GLSVLRTFRLLR737
CACNA1SLFTTEMLMKMYGLGLRQYFMSIFNRFDCFV>V<CSGILEILLVESGAMTPLGISVLRCIRLLR534
SCN10AFFTAEMVFKIIAFDPYYYFQKKWNIFDCII>V<TVSLLELGVAKKG-----SLSVLRSFRLLR762
SCN11AIFIAEMCLKIIALDPYHYFRRGWNIFDSIV>A<LLSFADVMNCVLQKR---SWPFLRSFRVLR676
SCN1AIFTAEMFLKIIAMDPYYYFQEGWNIFDGFI>V<TLSLVELGLANVE-----GLSVLRSFRLLR865
SCN2AIFTAEMFLKIIAMDPYYYFQEGWNIFDGFI>V<SLSLMELGLANVE-----GLSVLRSFRLLR856
SCN3AIFTAEMVLKIIAMDPYYYFQEGWNIFDGII>V<SLSLMELGLSNVE-----GLSVLRSFRLLR857
SCN4AIFTAEMVLKLIAMDPYEYFQQGWNIFDSII>V<TLSLVELGLANVQ-----GLSVLRSFRLLR675
SCN5AIFTAEMTFKIIALDPYYYFQQGWNIFDSII>V<ILSLMELGLSRMS-----NLSVLRSFRLLR814
SCN7AIFTAEMIFKIIAMHPYGYFQVGWNIFDSMI>V<FHGLIELCLANVA-----GMALLRLFRMLR602
SCN8AIFTAEMFLKLIAMDPYYYFQEGWNIFDGFI>V<SLSLMELSLADVE-----GLSVLRSFRLLR850
SCN9AIFAAEMVLKLIAMDPYEYFQVGWNIFDSLI>V<TLSLVELFLADVE-----GLSVLRSFRLLR830
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V596Mc.1786G>A Putative BenignSIFT:
Polyphen: