Paralogue Annotation for CACNA1C residue 544

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 544
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 544

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE788KDravet syndromeHigh9 18076640

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.



CACNA1CRRKCRAAVKSNVFYWLVIFLVFLNTLTIAS>E<HYNQPNWLTEVQDTANKALLALFTAEMLLK574
CACNA1ARFYIRRMVKTQAFYWTVLSLVALNTLCVAI>V<HYNQPEWLSDFLYYAEFIFLGLFMSEMFIK537
CACNA1BRFFIRRMVKAQSFYWVVLCVVALNTLCVAM>V<HYNQPRRLTTTLYFAEFVFLGLFLTEMSLK533
CACNA1DRRRCRAAVKSVTFYWLVIVLVFLNTLTISS>E<HYNQPDWLTQIQDIANKVLLALFTCEMLVK593
CACNA1ERISIRHMVKSQVFYWIVLSLVALNTACVAI>V<HHNQPQWLTHLLYYAEFLFLGLFLLEMSLK526
CACNA1FRARCRRAVKSNACYWAVLLLVFLNTLTIAS>E<HHGQPVWLTQIQEYANKVLLCLFTVEMLLK579
CACNA1GCDTFRKIVDSKYFGRGIMIAILVNTLSMGI>E<YHEQPEELTNALEISNIVFTSLFALEMLLK793
CACNA1HSGKLRRIVDSKYFSRGIMMAILVNTLSMGV>E<YHEQPEELTNALEISNIVFTSMFALEMLLK843
CACNA1IRAKLRGIVDSKYFNRGIMMAILVNTVSMGI>E<HHEQPEELTNILEICNVVFTSMFALEMILK690
CACNA1SRWKCHDIVKSKVFYWLVILIVALNTLSIAS>E<HHNQPLWLTRLQDIANRVLLSLFTTEMLMK482
SCN10AKTILFGLVTDPFAELTITLCIVVNTIFMAM>E<HHGMSPTFEAMLQIGNIVFTIFFTAEMVFK715
SCN11AKKVLRTVMTDPFTELAITICIIINTVFLAM>E<HHKMEASFEKMLNIGNLVFTSIFIAEMCLK627
SCN1AKHVVNLVVMDPFVDLAITICIVLNTLFMAM>E<HYPMTDHFNNVLTVGNLVFTGIFTAEMFLK818
SCN2AKHLVNLVVMDPFVDLAITICIVLNTLFMAM>E<HYPMTEQFSSVLSVGNLVFTGIFTAEMFLK809
SCN3AKHLVNLIVMDPFVDLAITICIVLNTLFMAM>E<HYPMTEQFSSVLTVGNLVFTGIFTAEMVLK810
SCN4AKNIIHLIVMDPFVDLGITICIVLNTLFMAM>E<HYPMTEHFDNVLTVGNLVFTGIFTAEMVLK628
SCN5AKQGVKLVVMDPFTDLTITMCIVLNTLFMAL>E<HYNMTSEFEEMLQVGNLVFTGIFTAEMTFK767
SCN7AKEFVHRIIMAPFTDLFLIICIILNVCFLTL>E<HYPMSKQTNTLLNIGNLVFIGIFTAEMIFK555
SCN8AKEIVNLIVMDPFVDLAITICIVLNTLFMAM>E<HHPMTPQFEHVLAVGNLVFTGIFTAEMFLK803
SCN9AKKCIYFIVMDPFVDLAITICIVLNTLFMAM>E<HHPMTEEFKNVLAIGNLVFTGIFAAEMVLK783
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 544 for CACNA1C.