Paralogue Annotation for CACNA1C residue 587

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 587
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 587

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AG822SNeurodevelopmental disorderMedium9 27087320

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.



CACNA1CDTANKALLALFTAEMLLKMYSLGLQAYFVS>L<FNRFDCFVVCGGILETILVETKIMSPLGIS617
CACNA1AYYAEFIFLGLFMSEMFIKMYGLGTRPYFHS>S<FNCFDCGVIIGSIFEVIWAVIKPGTSFGIS580
CACNA1BYFAEFVFLGLFLTEMSLKMYGLGPRSYFRS>S<FNCFDFGVIVGSVFEVVWAAIKPGSSFGIS576
CACNA1DDIANKVLLALFTCEMLVKMYSLGLQAYFVS>L<FNRFDCFVVCGGITETILVELEIMSPLGIS636
CACNA1EYYAEFLFLGLFLLEMSLKMYGMGPRLYFHS>S<FNCFDFGVTVGSIFEVVWAIFRPGTSFGIS569
CACNA1FEYANKVLLCLFTVEMLLKLYGLGPSAYVSS>F<FNRFDCFVVCGGILETTLVEVGAMQPLGIS622
CACNA1GEISNIVFTSLFALEMLLKLLVYGPFGYIKN>P<YNIFDGVIVVISVWEIVGQQGG-----GLS831
CACNA1HEISNIVFTSMFALEMLLKLLACGPLGYIRN>P<YNIFDGIIVVISVWEIVGQADG-----GLS881
CACNA1IEICNVVFTSMFALEMILKLAAFGLFDYLRN>P<YNIFDSIIVIISIWEIVGQADG-----GLS728
CACNA1SDIANRVLLSLFTTEMLMKMYGLGLRQYFMS>I<FNRFDCFVVCSGILEILLVESGAMTPLGIS525
SCN10AQIGNIVFTIFFTAEMVFKIIAFDPYYYFQK>K<WNIFDCIIVTVSLLELGVAKKG-----SLS753
SCN11ANIGNLVFTSIFIAEMCLKIIALDPYHYFRR>G<WNIFDSIVALLSFADVMNCVLQKR---SWP667
SCN1ATVGNLVFTGIFTAEMFLKIIAMDPYYYFQE>G<WNIFDGFIVTLSLVELGLANVE-----GLS856
SCN2ASVGNLVFTGIFTAEMFLKIIAMDPYYYFQE>G<WNIFDGFIVSLSLMELGLANVE-----GLS847
SCN3ATVGNLVFTGIFTAEMVLKIIAMDPYYYFQE>G<WNIFDGIIVSLSLMELGLSNVE-----GLS848
SCN4ATVGNLVFTGIFTAEMVLKLIAMDPYEYFQQ>G<WNIFDSIIVTLSLVELGLANVQ-----GLS666
SCN5AQVGNLVFTGIFTAEMTFKIIALDPYYYFQQ>G<WNIFDSIIVILSLMELGLSRMS-----NLS805
SCN7ANIGNLVFIGIFTAEMIFKIIAMHPYGYFQV>G<WNIFDSMIVFHGLIELCLANVA-----GMA593
SCN8AAVGNLVFTGIFTAEMFLKLIAMDPYYYFQE>G<WNIFDGFIVSLSLMELSLADVE-----GLS841
SCN9AAIGNLVFTGIFAAEMVLKLIAMDPYEYFQV>G<WNIFDSLIVTLSLVELFLADVE-----GLS821
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 587 for CACNA1C.