Paralogue Annotation for CACNA1C residue 541

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 541
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 541

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM785TDravet syndrome C ?Medium9 21248271
SCN1AM785VDravet syndromeMedium9 26096185

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.



CACNA1CRFCRRKCRAAVKSNVFYWLVIFLVFLNTLT>I<ASEHYNQPNWLTEVQDTANKALLALFTAEM571
CACNA1ARRMRFYIRRMVKTQAFYWTVLSLVALNTLC>V<AIVHYNQPEWLSDFLYYAEFIFLGLFMSEM534
CACNA1BKMFRFFIRRMVKAQSFYWVVLCVVALNTLC>V<AMVHYNQPRRLTTTLYFAEFVFLGLFLTEM530
CACNA1DRFNRRRCRAAVKSVTFYWLVIVLVFLNTLT>I<SSEHYNQPDWLTQIQDIANKVLLALFTCEM590
CACNA1ERLLRISIRHMVKSQVFYWIVLSLVALNTAC>V<AIVHHNQPQWLTHLLYYAEFLFLGLFLLEM523
CACNA1FRVLRARCRRAVKSNACYWAVLLLVFLNTLT>I<ASEHHGQPVWLTQIQEYANKVLLCLFTVEM576
CACNA1GRLICDTFRKIVDSKYFGRGIMIAILVNTLS>M<GIEYHEQPEELTNALEISNIVFTSLFALEM790
CACNA1HVTFSGKLRRIVDSKYFSRGIMMAILVNTLS>M<GVEYHEQPEELTNALEISNIVFTSMFALEM840
CACNA1IRETRAKLRGIVDSKYFNRGIMMAILVNTVS>M<GIEHHEQPEELTNILEICNVVFTSMFALEM687
CACNA1SRIFRWKCHDIVKSKVFYWLVILIVALNTLS>I<ASEHHNQPLWLTRLQDIANRVLLSLFTTEM479
SCN10AVKLKTILFGLVTDPFAELTITLCIVVNTIF>M<AMEHHGMSPTFEAMLQIGNIVFTIFFTAEM712
SCN11ALCVKKVLRTVMTDPFTELAITICIIINTVF>L<AMEHHKMEASFEKMLNIGNLVFTSIFIAEM624
SCN1ALKVKHVVNLVVMDPFVDLAITICIVLNTLF>M<AMEHYPMTDHFNNVLTVGNLVFTGIFTAEM815
SCN2ALKVKHLVNLVVMDPFVDLAITICIVLNTLF>M<AMEHYPMTEQFSSVLSVGNLVFTGIFTAEM806
SCN3ALKVKHLVNLIVMDPFVDLAITICIVLNTLF>M<AMEHYPMTEQFSSVLTVGNLVFTGIFTAEM807
SCN4ALKFKNIIHLIVMDPFVDLGITICIVLNTLF>M<AMEHYPMTEHFDNVLTVGNLVFTGIFTAEM625
SCN5AMSIKQGVKLVVMDPFTDLTITMCIVLNTLF>M<ALEHYNMTSEFEEMLQVGNLVFTGIFTAEM764
SCN7ALKLKEFVHRIIMAPFTDLFLIICIILNVCF>L<TLEHYPMSKQTNTLLNIGNLVFIGIFTAEM552
SCN8AIKLKEIVNLIVMDPFVDLAITICIVLNTLF>M<AMEHHPMTPQFEHVLAVGNLVFTGIFTAEM800
SCN9AIKFKKCIYFIVMDPFVDLAITICIVLNTLF>M<AMEHHPMTEEFKNVLAIGNLVFTGIFAAEM780
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 541 for CACNA1C.