Paralogue Annotation for CACNA1C residue 586

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 586
Reference Amino Acid: S - Serine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 586

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AQ779KLong QT syndromeMedium9 20541041

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.



CACNA1CQDTANKALLALFTAEMLLKMYSLGLQAYFV>S<LFNRFDCFVVCGGILETILVETKIMSPLGI616
CACNA1ALYYAEFIFLGLFMSEMFIKMYGLGTRPYFH>S<SFNCFDCGVIIGSIFEVIWAVIKPGTSFGI579
CACNA1BLYFAEFVFLGLFLTEMSLKMYGLGPRSYFR>S<SFNCFDFGVIVGSVFEVVWAAIKPGSSFGI575
CACNA1DQDIANKVLLALFTCEMLVKMYSLGLQAYFV>S<LFNRFDCFVVCGGITETILVELEIMSPLGI635
CACNA1ELYYAEFLFLGLFLLEMSLKMYGMGPRLYFH>S<SFNCFDFGVTVGSIFEVVWAIFRPGTSFGI568
CACNA1FQEYANKVLLCLFTVEMLLKLYGLGPSAYVS>S<FFNRFDCFVVCGGILETTLVEVGAMQPLGI621
CACNA1GLEISNIVFTSLFALEMLLKLLVYGPFGYIK>N<PYNIFDGVIVVISVWEIVGQQGG-----GL830
CACNA1HLEISNIVFTSMFALEMLLKLLACGPLGYIR>N<PYNIFDGIIVVISVWEIVGQADG-----GL880
CACNA1ILEICNVVFTSMFALEMILKLAAFGLFDYLR>N<PYNIFDSIIVIISIWEIVGQADG-----GL727
CACNA1SQDIANRVLLSLFTTEMLMKMYGLGLRQYFM>S<IFNRFDCFVVCSGILEILLVESGAMTPLGI524
SCN10ALQIGNIVFTIFFTAEMVFKIIAFDPYYYFQ>K<KWNIFDCIIVTVSLLELGVAKKG-----SL752
SCN11ALNIGNLVFTSIFIAEMCLKIIALDPYHYFR>R<GWNIFDSIVALLSFADVMNCVLQKR---SW666
SCN1ALTVGNLVFTGIFTAEMFLKIIAMDPYYYFQ>E<GWNIFDGFIVTLSLVELGLANVE-----GL855
SCN2ALSVGNLVFTGIFTAEMFLKIIAMDPYYYFQ>E<GWNIFDGFIVSLSLMELGLANVE-----GL846
SCN3ALTVGNLVFTGIFTAEMVLKIIAMDPYYYFQ>E<GWNIFDGIIVSLSLMELGLSNVE-----GL847
SCN4ALTVGNLVFTGIFTAEMVLKLIAMDPYEYFQ>Q<GWNIFDSIIVTLSLVELGLANVQ-----GL665
SCN5ALQVGNLVFTGIFTAEMTFKIIALDPYYYFQ>Q<GWNIFDSIIVILSLMELGLSRMS-----NL804
SCN7ALNIGNLVFIGIFTAEMIFKIIAMHPYGYFQ>V<GWNIFDSMIVFHGLIELCLANVA-----GM592
SCN8ALAVGNLVFTGIFTAEMFLKLIAMDPYYYFQ>E<GWNIFDGFIVSLSLMELSLADVE-----GL840
SCN9ALAIGNLVFTGIFAAEMVLKLIAMDPYEYFQ>V<GWNIFDSLIVTLSLVELFLADVE-----GL820
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 586 for CACNA1C.