Paralogue Annotation for CACNA1C residue 934

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 934
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 934

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AE1240QBrugada syndromeMedium9 11901046, 23414114

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.



CACNA1CLILFFILLSSISLAAEDPV-QHTSFRNHIL>F<YFDIVFTTIFTIEIALKMTAYGAFLHKGSF964
CACNA1ACILMVIAMSSIALAAEDPV-QPNAPRNNVL>R<YFDYVFTGVFTFEMVIKMIDLGLVLHQGAY1308
CACNA1BVILVVIALSSIALAAEDPV-RTDSPRNNAL>K<YLDYIFTGVFTFEMVIKMIDLGLLLHPGAY1215
CACNA1DLILVFIMLSSAALAAEDPI-RSHSFRNTIL>G<YFDYAFTAIFTVEILLKMTTFGAFLHKGAF970
CACNA1ECILLVIAASSIALAAEDPV-LTNSERNKVL>R<YFDYVFTGVFTFEMVIKMIDQGLILQDGSY1217
CACNA1FLILVFIILSSVSLAAEDPI-RAHSFRNHIL>G<YFDYAFTSIFTVEILLKMTVFGAFLHRGSF935
CACNA1GVVLVIIFLNCITIAMERPKIDPHSAERIFL>T<LSNYIFTAVFLAEMTVKVVALGWCFGEQAY1341
CACNA1HVVLVFIFLNCVTIALERPDIDPGSTERVFL>S<VSNYIFTAIFVAEMMVKVVALGLLSGEHAY1359
CACNA1IVVLAFIFLNCITIALERPQIEAGSTERIFL>T<VSNYIFTAIFVGEMTLKVVSLGLYFGEQAY1235
CACNA1SFILLFILLSSAALAAEDPI-RADSMRNQIL>K<HFDIGFTSVFTVEIVLKMTTYGAFLHKGSF863
SCN10AFIIFMILLSSGSLAFEDYYLDQKPTVKALL>E<YTDRVFTFIFVFEMLLKWVAYGF----KKY1213
SCN11AFIIFVILLSSGALIFEDVHLENQPKIQELL>N<CTDIIFTHIFILEMVLKWVAFGF----GKY1117
SCN1AFIVFMILLSSGALAFEDIYIDQRKTIKTML>E<YADKVFTYIFILEMLLKWVAYGY----QTY1279
SCN2AFIVFMILLSSGALAFEDIYIEQRKTIKTML>E<YADKVFTYIFILEMLLKWVAYGF----QVY1269
SCN3AFIVFMILLSSGALAFEDIYIEQRKTIKTML>E<YADKVFTYIFILEMLLKWVAYGF----QTY1267
SCN4AFIVFMILLSSGALAFEDIYIEQRRVIRTIL>E<YADKVFTYIFIMEMLLKWVAYGF----KVY1092
SCN5AFIIFMILLSSGALAFEDIYLEERKTIKVLL>E<YADKMFTYVFVLEMLLKWVAYGF----KKY1266
SCN7AFIGLVTLLSTGTLAFEDIYMDQRKTIKILL>E<YADMIFTYIFILEMLLKWMAYGF----KAY995
SCN8AFIIFMILLSSGALAFEDIYIEQRKTIRTIL>E<YADKVFTYIFILEMLLKWTAYGF----VKF1259
SCN9AFIVLMILLSSGALAFEDIYIERKKTIKIIL>E<YADKIFTYIFILEMLLKWIAYGY----KTY1242
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 934 for CACNA1C.