Paralogue Annotation for CACNA1C residue 571

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 571
Reference Amino Acid: M - Methionine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 571

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AM764RBrugada syndromeHigh9 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.



CACNA1CIASEHYNQPNWLTEVQDTANKALLALFTAE>M<LLKMYSLGLQAYFVSLFNRFDCFVVCGGIL601
CACNA1AVAIVHYNQPEWLSDFLYYAEFIFLGLFMSE>M<FIKMYGLGTRPYFHSSFNCFDCGVIIGSIF564
CACNA1BVAMVHYNQPRRLTTTLYFAEFVFLGLFLTE>M<SLKMYGLGPRSYFRSSFNCFDFGVIVGSVF560
CACNA1DISSEHYNQPDWLTQIQDIANKVLLALFTCE>M<LVKMYSLGLQAYFVSLFNRFDCFVVCGGIT620
CACNA1EVAIVHHNQPQWLTHLLYYAEFLFLGLFLLE>M<SLKMYGMGPRLYFHSSFNCFDFGVTVGSIF553
CACNA1FIASEHHGQPVWLTQIQEYANKVLLCLFTVE>M<LLKLYGLGPSAYVSSFFNRFDCFVVCGGIL606
CACNA1GMGIEYHEQPEELTNALEISNIVFTSLFALE>M<LLKLLVYGPFGYIKNPYNIFDGVIVVISVW820
CACNA1HMGVEYHEQPEELTNALEISNIVFTSMFALE>M<LLKLLACGPLGYIRNPYNIFDGIIVVISVW870
CACNA1IMGIEHHEQPEELTNILEICNVVFTSMFALE>M<ILKLAAFGLFDYLRNPYNIFDSIIVIISIW717
CACNA1SIASEHHNQPLWLTRLQDIANRVLLSLFTTE>M<LMKMYGLGLRQYFMSIFNRFDCFVVCSGIL509
SCN10AMAMEHHGMSPTFEAMLQIGNIVFTIFFTAE>M<VFKIIAFDPYYYFQKKWNIFDCIIVTVSLL742
SCN11ALAMEHHKMEASFEKMLNIGNLVFTSIFIAE>M<CLKIIALDPYHYFRRGWNIFDSIVALLSFA654
SCN1AMAMEHYPMTDHFNNVLTVGNLVFTGIFTAE>M<FLKIIAMDPYYYFQEGWNIFDGFIVTLSLV845
SCN2AMAMEHYPMTEQFSSVLSVGNLVFTGIFTAE>M<FLKIIAMDPYYYFQEGWNIFDGFIVSLSLM836
SCN3AMAMEHYPMTEQFSSVLTVGNLVFTGIFTAE>M<VLKIIAMDPYYYFQEGWNIFDGIIVSLSLM837
SCN4AMAMEHYPMTEHFDNVLTVGNLVFTGIFTAE>M<VLKLIAMDPYEYFQQGWNIFDSIIVTLSLV655
SCN5AMALEHYNMTSEFEEMLQVGNLVFTGIFTAE>M<TFKIIALDPYYYFQQGWNIFDSIIVILSLM794
SCN7ALTLEHYPMSKQTNTLLNIGNLVFIGIFTAE>M<IFKIIAMHPYGYFQVGWNIFDSMIVFHGLI582
SCN8AMAMEHHPMTPQFEHVLAVGNLVFTGIFTAE>M<FLKLIAMDPYYYFQEGWNIFDGFIVSLSLM830
SCN9AMAMEHHPMTEEFKNVLAIGNLVFTGIFAAE>M<VLKLIAMDPYEYFQVGWNIFDSLIVTLSLV810
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 571 for CACNA1C.