Paralogue Annotation for CACNA1C residue 926

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 926
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 926

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AR1232QBrugada syndromeMedium7 20129283, 24136861
SCN5AR1232WVentricular fibrillation, idiopathic ?Medium7 9521325, 11013131, 21321465, 11786529, 24136861
SCN1AR1245QMyoclonic epilepsy of infancyMedium7 17054684, 21906962

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.



CACNA1CVNDTIFTNLILFFILLSSISLAAEDPV-QH>T<SFRNHILFYFDIVFTTIFTIEIALKMTAYG956
CACNA1ALNLRYFEMCILMVIAMSSIALAAEDPV-QP>N<APRNNVLRYFDYVFTGVFTFEMVIKMIDLG1300
CACNA1BVTMRYFEVVILVVIALSSIALAAEDPV-RT>D<SPRNNALKYLDYIFTGVFTFEMVIKMIDLG1207
CACNA1DINHHIFTNLILVFIMLSSAALAAEDPI-RS>H<SFRNTILGYFDYAFTAIFTVEILLKMTTFG962
CACNA1EVNLRYFEMCILLVIAASSIALAAEDPV-LT>N<SERNKVLRYFDYVFTGVFTFEMVIKMIDQG1209
CACNA1FIHHHVFTNLILVFIILSSVSLAAEDPI-RA>H<SFRNHILGYFDYAFTSIFTVEILLKMTVFG927
CACNA1GITHKMFDHVVLVIIFLNCITIAMERPKIDP>H<SAERIFLTLSNYIFTAVFLAEMTVKVVALG1333
CACNA1HITHKMFDHVVLVFIFLNCVTIALERPDIDP>G<STERVFLSVSNYIFTAIFVAEMMVKVVALG1351
CACNA1IIAHKLFDYVVLAFIFLNCITIALERPQIEA>G<STERIFLTVSNYIFTAIFVGEMTLKVVSLG1227
CACNA1SVNATWFTNFILLFILLSSAALAAEDPI-RA>D<SMRNQILKHFDIGFTSVFTVEIVLKMTTYG855
SCN10AVEHSWFESFIIFMILLSSGSLAFEDYYLDQ>K<PTVKALLEYTDRVFTFIFVFEMLLKWVAYG1209
SCN11AVKHSWFESFIIFVILLSSGALIFEDVHLEN>Q<PKIQELLNCTDIIFTHIFILEMVLKWVAFG1113
SCN1AVEHNWFETFIVFMILLSSGALAFEDIYIDQ>R<KTIKTMLEYADKVFTYIFILEMLLKWVAYG1275
SCN2AVEHNWFETFIVFMILLSSGALAFEDIYIEQ>R<KTIKTMLEYADKVFTYIFILEMLLKWVAYG1265
SCN3AVEHNWFETFIVFMILLSSGALAFEDIYIEQ>R<KTIKTMLEYADKVFTYIFILEMLLKWVAYG1263
SCN4AVEHNWFETFIVFMILLSSGALAFEDIYIEQ>R<RVIRTILEYADKVFTYIFIMEMLLKWVAYG1088
SCN5AVEHSWFETFIIFMILLSSGALAFEDIYLEE>R<KTIKVLLEYADKMFTYVFVLEMLLKWVAYG1262
SCN7AVENNWFKCFIGLVTLLSTGTLAFEDIYMDQ>R<KTIKILLEYADMIFTYIFILEMLLKWMAYG991
SCN8AVEHNWFETFIIFMILLSSGALAFEDIYIEQ>R<KTIRTILEYADKVFTYIFILEMLLKWTAYG1255
SCN9AVEHSWFESFIVLMILLSSGALAFEDIYIER>K<KTIKIILEYADKIFTYIFILEMLLKWIAYG1238
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 926 for CACNA1C.