Paralogue Annotation for CACNA1C residue 565

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 565
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 565

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG758EBrugada syndromeMedium9 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.



CACNA1CFLNTLTIASEHYNQPNWLTEVQDTANKALL>A<LFTAEMLLKMYSLGLQAYFVSLFNRFDCFV595
CACNA1AALNTLCVAIVHYNQPEWLSDFLYYAEFIFL>G<LFMSEMFIKMYGLGTRPYFHSSFNCFDCGV558
CACNA1BALNTLCVAMVHYNQPRRLTTTLYFAEFVFL>G<LFLTEMSLKMYGLGPRSYFRSSFNCFDFGV554
CACNA1DFLNTLTISSEHYNQPDWLTQIQDIANKVLL>A<LFTCEMLVKMYSLGLQAYFVSLFNRFDCFV614
CACNA1EALNTACVAIVHHNQPQWLTHLLYYAEFLFL>G<LFLLEMSLKMYGMGPRLYFHSSFNCFDFGV547
CACNA1FFLNTLTIASEHHGQPVWLTQIQEYANKVLL>C<LFTVEMLLKLYGLGPSAYVSSFFNRFDCFV600
CACNA1GLVNTLSMGIEYHEQPEELTNALEISNIVFT>S<LFALEMLLKLLVYGPFGYIKNPYNIFDGVI814
CACNA1HLVNTLSMGVEYHEQPEELTNALEISNIVFT>S<MFALEMLLKLLACGPLGYIRNPYNIFDGII864
CACNA1ILVNTVSMGIEHHEQPEELTNILEICNVVFT>S<MFALEMILKLAAFGLFDYLRNPYNIFDSII711
CACNA1SALNTLSIASEHHNQPLWLTRLQDIANRVLL>S<LFTTEMLMKMYGLGLRQYFMSIFNRFDCFV503
SCN10AVVNTIFMAMEHHGMSPTFEAMLQIGNIVFT>I<FFTAEMVFKIIAFDPYYYFQKKWNIFDCII736
SCN11AIINTVFLAMEHHKMEASFEKMLNIGNLVFT>S<IFIAEMCLKIIALDPYHYFRRGWNIFDSIV648
SCN1AVLNTLFMAMEHYPMTDHFNNVLTVGNLVFT>G<IFTAEMFLKIIAMDPYYYFQEGWNIFDGFI839
SCN2AVLNTLFMAMEHYPMTEQFSSVLSVGNLVFT>G<IFTAEMFLKIIAMDPYYYFQEGWNIFDGFI830
SCN3AVLNTLFMAMEHYPMTEQFSSVLTVGNLVFT>G<IFTAEMVLKIIAMDPYYYFQEGWNIFDGII831
SCN4AVLNTLFMAMEHYPMTEHFDNVLTVGNLVFT>G<IFTAEMVLKLIAMDPYEYFQQGWNIFDSII649
SCN5AVLNTLFMALEHYNMTSEFEEMLQVGNLVFT>G<IFTAEMTFKIIALDPYYYFQQGWNIFDSII788
SCN7AILNVCFLTLEHYPMSKQTNTLLNIGNLVFI>G<IFTAEMIFKIIAMHPYGYFQVGWNIFDSMI576
SCN8AVLNTLFMAMEHHPMTPQFEHVLAVGNLVFT>G<IFTAEMFLKLIAMDPYYYFQEGWNIFDGFI824
SCN9AVLNTLFMAMEHHPMTEEFKNVLAIGNLVFT>G<IFAAEMVLKLIAMDPYEYFQVGWNIFDSLI804
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A565Tc.1693G>A Putative BenignSIFT:
Polyphen: