Paralogue Annotation for CACNA1C residue 584

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 584
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 584

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AF777LHeart block type 1High9 22247482

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.



CACNA1CEVQDTANKALLALFTAEMLLKMYSLGLQAY>F<VSLFNRFDCFVVCGGILETILVETKIMSPL614
CACNA1ADFLYYAEFIFLGLFMSEMFIKMYGLGTRPY>F<HSSFNCFDCGVIIGSIFEVIWAVIKPGTSF577
CACNA1BTTLYFAEFVFLGLFLTEMSLKMYGLGPRSY>F<RSSFNCFDFGVIVGSVFEVVWAAIKPGSSF573
CACNA1DQIQDIANKVLLALFTCEMLVKMYSLGLQAY>F<VSLFNRFDCFVVCGGITETILVELEIMSPL633
CACNA1EHLLYYAEFLFLGLFLLEMSLKMYGMGPRLY>F<HSSFNCFDFGVTVGSIFEVVWAIFRPGTSF566
CACNA1FQIQEYANKVLLCLFTVEMLLKLYGLGPSAY>V<SSFFNRFDCFVVCGGILETTLVEVGAMQPL619
CACNA1GNALEISNIVFTSLFALEMLLKLLVYGPFGY>I<KNPYNIFDGVIVVISVWEIVGQQGG-----828
CACNA1HNALEISNIVFTSMFALEMLLKLLACGPLGY>I<RNPYNIFDGIIVVISVWEIVGQADG-----878
CACNA1INILEICNVVFTSMFALEMILKLAAFGLFDY>L<RNPYNIFDSIIVIISIWEIVGQADG-----725
CACNA1SRLQDIANRVLLSLFTTEMLMKMYGLGLRQY>F<MSIFNRFDCFVVCSGILEILLVESGAMTPL522
SCN10AAMLQIGNIVFTIFFTAEMVFKIIAFDPYYY>F<QKKWNIFDCIIVTVSLLELGVAKKG-----750
SCN11AKMLNIGNLVFTSIFIAEMCLKIIALDPYHY>F<RRGWNIFDSIVALLSFADVMNCVLQKR---664
SCN1ANVLTVGNLVFTGIFTAEMFLKIIAMDPYYY>F<QEGWNIFDGFIVTLSLVELGLANVE-----853
SCN2ASVLSVGNLVFTGIFTAEMFLKIIAMDPYYY>F<QEGWNIFDGFIVSLSLMELGLANVE-----844
SCN3ASVLTVGNLVFTGIFTAEMVLKIIAMDPYYY>F<QEGWNIFDGIIVSLSLMELGLSNVE-----845
SCN4ANVLTVGNLVFTGIFTAEMVLKLIAMDPYEY>F<QQGWNIFDSIIVTLSLVELGLANVQ-----663
SCN5AEMLQVGNLVFTGIFTAEMTFKIIALDPYYY>F<QQGWNIFDSIIVILSLMELGLSRMS-----802
SCN7ATLLNIGNLVFIGIFTAEMIFKIIAMHPYGY>F<QVGWNIFDSMIVFHGLIELCLANVA-----590
SCN8AHVLAVGNLVFTGIFTAEMFLKLIAMDPYYY>F<QEGWNIFDGFIVSLSLMELSLADVE-----838
SCN9ANVLAIGNLVFTGIFAAEMVLKLIAMDPYEY>F<QVGWNIFDSLIVTLSLVELFLADVE-----818
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 584 for CACNA1C.