Paralogue Annotation for CACNA1C residue 579

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 579
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 579

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HG848SEpilepsy, childhood absenceHigh9 12891677
SCN5AD772NLong QT syndromeMedium9 19716085, 23571586, 24136861
SCN3AD815NEpilepsy, focalMedium9 24157691

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.



CACNA1CPNWLTEVQDTANKALLALFTAEMLLKMYSL>G<LQAYFVSLFNRFDCFVVCGGILETILVETK609
CACNA1APEWLSDFLYYAEFIFLGLFMSEMFIKMYGL>G<TRPYFHSSFNCFDCGVIIGSIFEVIWAVIK572
CACNA1BPRRLTTTLYFAEFVFLGLFLTEMSLKMYGL>G<PRSYFRSSFNCFDFGVIVGSVFEVVWAAIK568
CACNA1DPDWLTQIQDIANKVLLALFTCEMLVKMYSL>G<LQAYFVSLFNRFDCFVVCGGITETILVELE628
CACNA1EPQWLTHLLYYAEFLFLGLFLLEMSLKMYGM>G<PRLYFHSSFNCFDFGVTVGSIFEVVWAIFR561
CACNA1FPVWLTQIQEYANKVLLCLFTVEMLLKLYGL>G<PSAYVSSFFNRFDCFVVCGGILETTLVEVG614
CACNA1GPEELTNALEISNIVFTSLFALEMLLKLLVY>G<PFGYIKNPYNIFDGVIVVISVWEIVGQQGG828
CACNA1HPEELTNALEISNIVFTSMFALEMLLKLLAC>G<PLGYIRNPYNIFDGIIVVISVWEIVGQADG878
CACNA1IPEELTNILEICNVVFTSMFALEMILKLAAF>G<LFDYLRNPYNIFDSIIVIISIWEIVGQADG725
CACNA1SPLWLTRLQDIANRVLLSLFTTEMLMKMYGL>G<LRQYFMSIFNRFDCFVVCSGILEILLVESG517
SCN10ASPTFEAMLQIGNIVFTIFFTAEMVFKIIAF>D<PYYYFQKKWNIFDCIIVTVSLLELGVAKKG750
SCN11AEASFEKMLNIGNLVFTSIFIAEMCLKIIAL>D<PYHYFRRGWNIFDSIVALLSFADVMNCVLQ662
SCN1ATDHFNNVLTVGNLVFTGIFTAEMFLKIIAM>D<PYYYFQEGWNIFDGFIVTLSLVELGLANVE853
SCN2ATEQFSSVLSVGNLVFTGIFTAEMFLKIIAM>D<PYYYFQEGWNIFDGFIVSLSLMELGLANVE844
SCN3ATEQFSSVLTVGNLVFTGIFTAEMVLKIIAM>D<PYYYFQEGWNIFDGIIVSLSLMELGLSNVE845
SCN4ATEHFDNVLTVGNLVFTGIFTAEMVLKLIAM>D<PYEYFQQGWNIFDSIIVTLSLVELGLANVQ663
SCN5ATSEFEEMLQVGNLVFTGIFTAEMTFKIIAL>D<PYYYFQQGWNIFDSIIVILSLMELGLSRMS802
SCN7ASKQTNTLLNIGNLVFIGIFTAEMIFKIIAM>H<PYGYFQVGWNIFDSMIVFHGLIELCLANVA590
SCN8ATPQFEHVLAVGNLVFTGIFTAEMFLKLIAM>D<PYYYFQEGWNIFDGFIVSLSLMELSLADVE838
SCN9ATEEFKNVLAIGNLVFTGIFAAEMVLKLIAM>D<PYEYFQVGWNIFDSLIVTLSLVELFLADVE818
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 579 for CACNA1C.