Paralogue Annotation for CACNA1C residue 546

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 546
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 546

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY790CGeneralized epilepsy with febrile seizures plusHigh9 12919402, 25576396
SCN1AY790FPanayiotopoulos syndromeHigh9 17679682

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.



CACNA1CKCRAAVKSNVFYWLVIFLVFLNTLTIASEH>Y<NQPNWLTEVQDTANKALLALFTAEMLLKMY576
CACNA1AYIRRMVKTQAFYWTVLSLVALNTLCVAIVH>Y<NQPEWLSDFLYYAEFIFLGLFMSEMFIKMY539
CACNA1BFIRRMVKAQSFYWVVLCVVALNTLCVAMVH>Y<NQPRRLTTTLYFAEFVFLGLFLTEMSLKMY535
CACNA1DRCRAAVKSVTFYWLVIVLVFLNTLTISSEH>Y<NQPDWLTQIQDIANKVLLALFTCEMLVKMY595
CACNA1ESIRHMVKSQVFYWIVLSLVALNTACVAIVH>H<NQPQWLTHLLYYAEFLFLGLFLLEMSLKMY528
CACNA1FRCRRAVKSNACYWAVLLLVFLNTLTIASEH>H<GQPVWLTQIQEYANKVLLCLFTVEMLLKLY581
CACNA1GTFRKIVDSKYFGRGIMIAILVNTLSMGIEY>H<EQPEELTNALEISNIVFTSLFALEMLLKLL795
CACNA1HKLRRIVDSKYFSRGIMMAILVNTLSMGVEY>H<EQPEELTNALEISNIVFTSMFALEMLLKLL845
CACNA1IKLRGIVDSKYFNRGIMMAILVNTVSMGIEH>H<EQPEELTNILEICNVVFTSMFALEMILKLA692
CACNA1SKCHDIVKSKVFYWLVILIVALNTLSIASEH>H<NQPLWLTRLQDIANRVLLSLFTTEMLMKMY484
SCN10AILFGLVTDPFAELTITLCIVVNTIFMAMEH>H<GMSPTFEAMLQIGNIVFTIFFTAEMVFKII717
SCN11AVLRTVMTDPFTELAITICIIINTVFLAMEH>H<KMEASFEKMLNIGNLVFTSIFIAEMCLKII629
SCN1AVVNLVVMDPFVDLAITICIVLNTLFMAMEH>Y<PMTDHFNNVLTVGNLVFTGIFTAEMFLKII820
SCN2ALVNLVVMDPFVDLAITICIVLNTLFMAMEH>Y<PMTEQFSSVLSVGNLVFTGIFTAEMFLKII811
SCN3ALVNLIVMDPFVDLAITICIVLNTLFMAMEH>Y<PMTEQFSSVLTVGNLVFTGIFTAEMVLKII812
SCN4AIIHLIVMDPFVDLGITICIVLNTLFMAMEH>Y<PMTEHFDNVLTVGNLVFTGIFTAEMVLKLI630
SCN5AGVKLVVMDPFTDLTITMCIVLNTLFMALEH>Y<NMTSEFEEMLQVGNLVFTGIFTAEMTFKII769
SCN7AFVHRIIMAPFTDLFLIICIILNVCFLTLEH>Y<PMSKQTNTLLNIGNLVFIGIFTAEMIFKII557
SCN8AIVNLIVMDPFVDLAITICIVLNTLFMAMEH>H<PMTPQFEHVLAVGNLVFTGIFTAEMFLKLI805
SCN9ACIYFIVMDPFVDLAITICIVLNTLFMAMEH>H<PMTEEFKNVLAIGNLVFTGIFAAEMVLKLI785
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 546 for CACNA1C.