Paralogue Annotation for CACNA1C residue 930

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 930
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 930

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AK1236RBrugada syndrome ?Medium8 21126620
SCN5AK1236NBrugada syndromeMedium8 11901046
SCN1AK1249NGeneralized epilepsy with febrile seizures plusMedium8 19522081

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.



CACNA1CIFTNLILFFILLSSISLAAEDPV-QHTSFR>N<HILFYFDIVFTTIFTIEIALKMTAYGAFLH960
CACNA1AYFEMCILMVIAMSSIALAAEDPV-QPNAPR>N<NVLRYFDYVFTGVFTFEMVIKMIDLGLVLH1304
CACNA1BYFEVVILVVIALSSIALAAEDPV-RTDSPR>N<NALKYLDYIFTGVFTFEMVIKMIDLGLLLH1211
CACNA1DIFTNLILVFIMLSSAALAAEDPI-RSHSFR>N<TILGYFDYAFTAIFTVEILLKMTTFGAFLH966
CACNA1EYFEMCILLVIAASSIALAAEDPV-LTNSER>N<KVLRYFDYVFTGVFTFEMVIKMIDQGLILQ1213
CACNA1FVFTNLILVFIILSSVSLAAEDPI-RAHSFR>N<HILGYFDYAFTSIFTVEILLKMTVFGAFLH931
CACNA1GMFDHVVLVIIFLNCITIAMERPKIDPHSAE>R<IFLTLSNYIFTAVFLAEMTVKVVALGWCFG1337
CACNA1HMFDHVVLVFIFLNCVTIALERPDIDPGSTE>R<VFLSVSNYIFTAIFVAEMMVKVVALGLLSG1355
CACNA1ILFDYVVLAFIFLNCITIALERPQIEAGSTE>R<IFLTVSNYIFTAIFVGEMTLKVVSLGLYFG1231
CACNA1SWFTNFILLFILLSSAALAAEDPI-RADSMR>N<QILKHFDIGFTSVFTVEIVLKMTTYGAFLH859
SCN10AWFESFIIFMILLSSGSLAFEDYYLDQKPTV>K<ALLEYTDRVFTFIFVFEMLLKWVAYGF---1210
SCN11AWFESFIIFVILLSSGALIFEDVHLENQPKI>Q<ELLNCTDIIFTHIFILEMVLKWVAFGF---1114
SCN1AWFETFIVFMILLSSGALAFEDIYIDQRKTI>K<TMLEYADKVFTYIFILEMLLKWVAYGY---1276
SCN2AWFETFIVFMILLSSGALAFEDIYIEQRKTI>K<TMLEYADKVFTYIFILEMLLKWVAYGF---1266
SCN3AWFETFIVFMILLSSGALAFEDIYIEQRKTI>K<TMLEYADKVFTYIFILEMLLKWVAYGF---1264
SCN4AWFETFIVFMILLSSGALAFEDIYIEQRRVI>R<TILEYADKVFTYIFIMEMLLKWVAYGF---1089
SCN5AWFETFIIFMILLSSGALAFEDIYLEERKTI>K<VLLEYADKMFTYVFVLEMLLKWVAYGF---1263
SCN7AWFKCFIGLVTLLSTGTLAFEDIYMDQRKTI>K<ILLEYADMIFTYIFILEMLLKWMAYGF---992
SCN8AWFETFIIFMILLSSGALAFEDIYIEQRKTI>R<TILEYADKVFTYIFILEMLLKWTAYGF---1256
SCN9AWFESFIVLMILLSSGALAFEDIYIERKKTI>K<IILEYADKIFTYIFILEMLLKWIAYGY---1239
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 930 for CACNA1C.