Paralogue Annotation for CACNA1C residue 358

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 358
Reference Amino Acid: Q - Glutamine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 358

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AR367CBrugada syndromeMedium9 12106943, 19716085, 24136861
SCN5AR367HSudden unexplained nocturnal death syndromeMedium9 11823453, 22028457, 22899775, 24136861, 14687250
SCN5AR367LBrugada syndromeMedium9 20129283, 24136861
SCN1AR377QGeneralized epilepsy with febrile seizures plusMedium9 18413471, 26096185
SCN1AR377LDravet syndromeMedium9 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.



CACNA1C-GTVCKPGWDGPKHGITNFDNFAFAMLTVF>Q<CITMEGWTDVLYWVNDAVGRDWPWIYFVTL388
CACNA1ANGTKCQPYWEGPNNGITQFDNILFAVLTVF>Q<CITMEGWTDLLYNSNDASGNTWNWLYFIPL343
CACNA1BGDTECREYWPGPNFGITNFDNILFAILTVF>Q<CITMEGWTDILYNTNDAAGNTWNWLYFIPL339
CACNA1DNGTECRSGWVGPNGGITNFDNFAFAMLTVF>Q<CITMEGWTDVLYWVNDAIGWEWPWVYFVSL389
CACNA1EAGYEC-KDWIGPNDGITQFDNILFAVLTVF>Q<CITMEGWTTVLYNTNDALGATWNWLYFIPL334
CACNA1FNQTECRGRWPGPNGGITNFDNFFFAMLTVF>Q<CVTMEGWTDVLYWMQDAMGYELPWVYFVSL355
CACNA1GYYTNCSAGEHNPFKGAINFDNIGYAWIAIF>Q<VITLEGWVDIMYFVMDAHSF-YNFIYFILL378
CACNA1HYYNVCRSGDSNPHNGAINFDNIGYAWIAIF>Q<VITLEGWVDIMYYVMDAHSF-YNFIYFILL402
CACNA1IYYNVCRTGSANPHKGAINFDNIGYAWIVIF>Q<VITLEGWVEIMYYVMDAHSF-YNFIYFILL381
CACNA1SNGSECRGGWPGPNHGITHFDNFGFSMLTVY>Q<CITMEGWTDVLYWVNDAIGNEWPWIYFVTL317
SCN10ADGYICLKTSDNPDFNYTSFDSFAWAFLSLF>R<LMTQDSWERLYQQTLRTSGKIY-MIFFVLV380
SCN11AIQYECKHTKINPDYNYTNFDNFGWSFLAMF>R<LMTQDSWEKLYQQTLRTTGLYS-VFFFIVV383
SCN1AEGYMCVKAGRNPNYGYTSFDTFSWAFLSLF>R<LMTQDFWENLYQLTLRAAGKTY-MIFFVLV406
SCN2AEGYICVKAGRNPNYGYTSFDTFSWAFLSLF>R<LMTQDFWENLYQLTLRAAGKTY-MIFFVLV408
SCN3AEGYICVKAGRNPNYGYTSFDTFSWAFLSLF>R<LMTQDYWENLYQLTLRAAGKTY-MIFFVLV407
SCN4AEGYECIKTGRNPNYGYTSYDTFSWAFLALF>R<LMTQDYWENLFQLTLRAAGKTY-MIFFVVI430
SCN5AEGYRCLKAGENPDHGYTSFDSFAWAFLALF>R<LMTQDCWERLYQQTLRSAGKIY-MIFFMLV396
SCN7AEGYVCVKAGINPDQGFTNFDSFGWALFALF>R<LMAQDYPEVLYHQILYASGKVY-MIFFVVV377
SCN8AEGYQCMKAGRNPNYGYTSFDTFSWAFLALF>R<LMTQDYWENLYQLTLRAAGKTY-MIFFVLV394
SCN9AEGYTCVKIGRNPDYGYTSFDTFSWAFLALF>R<LMTQDYWENLYQQTLRAAGKTY-MIFFVVV385
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 358 for CACNA1C.