Paralogue Annotation for CACNA1C residue 599

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 599
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 599

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS843RDravet syndromeMedium6 18930999
SCN1AS843RDravet syndromeMedium6 18930999

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.



CACNA1CAEMLLKMYSLGLQAYFVSLFNRFDCFVVCG>G<ILETILVETKIMSPLGISVLRCVRLLRIFK629
CACNA1ASEMFIKMYGLGTRPYFHSSFNCFDCGVIIG>S<IFEVIWAVIKPGTSFGISVLRALRLLRIFK592
CACNA1BTEMSLKMYGLGPRSYFRSSFNCFDFGVIVG>S<VFEVVWAAIKPGSSFGISVLRALRLLRIFK588
CACNA1DCEMLVKMYSLGLQAYFVSLFNRFDCFVVCG>G<ITETILVELEIMSPLGISVFRCVRLLRIFK648
CACNA1ELEMSLKMYGMGPRLYFHSSFNCFDFGVTVG>S<IFEVVWAIFRPGTSFGISVLRALRLLRIFK581
CACNA1FVEMLLKLYGLGPSAYVSSFFNRFDCFVVCG>G<ILETTLVEVGAMQPLGISVLRCVRLLRIFK634
CACNA1GLEMLLKLLVYGPFGYIKNPYNIFDGVIVVI>S<VWEIVGQQGG-----GLSVLRTFRLMRVLK843
CACNA1HLEMLLKLLACGPLGYIRNPYNIFDGIIVVI>S<VWEIVGQADG-----GLSVLRTFRLLRVLK893
CACNA1ILEMILKLAAFGLFDYLRNPYNIFDSIIVII>S<IWEIVGQADG-----GLSVLRTFRLLRVLK740
CACNA1STEMLMKMYGLGLRQYFMSIFNRFDCFVVCS>G<ILEILLVESGAMTPLGISVLRCIRLLRIFK537
SCN10AAEMVFKIIAFDPYYYFQKKWNIFDCIIVTV>S<LLELGVAKKG-----SLSVLRSFRLLRVFK765
SCN11AAEMCLKIIALDPYHYFRRGWNIFDSIVALL>S<FADVMNCVLQKR---SWPFLRSFRVLRVFK679
SCN1AAEMFLKIIAMDPYYYFQEGWNIFDGFIVTL>S<LVELGLANVE-----GLSVLRSFRLLRVFK868
SCN2AAEMFLKIIAMDPYYYFQEGWNIFDGFIVSL>S<LMELGLANVE-----GLSVLRSFRLLRVFK859
SCN3AAEMVLKIIAMDPYYYFQEGWNIFDGIIVSL>S<LMELGLSNVE-----GLSVLRSFRLLRVFK860
SCN4AAEMVLKLIAMDPYEYFQQGWNIFDSIIVTL>S<LVELGLANVQ-----GLSVLRSFRLLRVFK678
SCN5AAEMTFKIIALDPYYYFQQGWNIFDSIIVIL>S<LMELGLSRMS-----NLSVLRSFRLLRVFK817
SCN7AAEMIFKIIAMHPYGYFQVGWNIFDSMIVFH>G<LIELCLANVA-----GMALLRLFRMLRIFK605
SCN8AAEMFLKLIAMDPYYYFQEGWNIFDGFIVSL>S<LMELSLADVE-----GLSVLRSFRLLRVFK853
SCN9AAEMVLKLIAMDPYEYFQVGWNIFDSLIVTL>S<LVELFLADVE-----GLSVLRSFRLLRVFK833
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 599 for CACNA1C.