Paralogue Annotation for CACNA1C residue 935

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 935
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 935

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AY1241SLong QT syndromeHigh9 19862833
SCN1AY1254CIntractable epilepsyHigh9 23195492

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.



CACNA1CILFFILLSSISLAAEDPV-QHTSFRNHILF>Y<FDIVFTTIFTIEIALKMTAYGAFLHKGSFC965
CACNA1AILMVIAMSSIALAAEDPV-QPNAPRNNVLR>Y<FDYVFTGVFTFEMVIKMIDLGLVLHQGAYF1309
CACNA1BILVVIALSSIALAAEDPV-RTDSPRNNALK>Y<LDYIFTGVFTFEMVIKMIDLGLLLHPGAYF1216
CACNA1DILVFIMLSSAALAAEDPI-RSHSFRNTILG>Y<FDYAFTAIFTVEILLKMTTFGAFLHKGAFC971
CACNA1EILLVIAASSIALAAEDPV-LTNSERNKVLR>Y<FDYVFTGVFTFEMVIKMIDQGLILQDGSYF1218
CACNA1FILVFIILSSVSLAAEDPI-RAHSFRNHILG>Y<FDYAFTSIFTVEILLKMTVFGAFLHRGSFC936
CACNA1GVLVIIFLNCITIAMERPKIDPHSAERIFLT>L<SNYIFTAVFLAEMTVKVVALGWCFGEQAYL1342
CACNA1HVLVFIFLNCVTIALERPDIDPGSTERVFLS>V<SNYIFTAIFVAEMMVKVVALGLLSGEHAYL1360
CACNA1IVLAFIFLNCITIALERPQIEAGSTERIFLT>V<SNYIFTAIFVGEMTLKVVSLGLYFGEQAYL1236
CACNA1SILLFILLSSAALAAEDPI-RADSMRNQILK>H<FDIGFTSVFTVEIVLKMTTYGAFLHKGSFC864
SCN10AIIFMILLSSGSLAFEDYYLDQKPTVKALLE>Y<TDRVFTFIFVFEMLLKWVAYGF----KKYF1214
SCN11AIIFVILLSSGALIFEDVHLENQPKIQELLN>C<TDIIFTHIFILEMVLKWVAFGF----GKYF1118
SCN1AIVFMILLSSGALAFEDIYIDQRKTIKTMLE>Y<ADKVFTYIFILEMLLKWVAYGY----QTYF1280
SCN2AIVFMILLSSGALAFEDIYIEQRKTIKTMLE>Y<ADKVFTYIFILEMLLKWVAYGF----QVYF1270
SCN3AIVFMILLSSGALAFEDIYIEQRKTIKTMLE>Y<ADKVFTYIFILEMLLKWVAYGF----QTYF1268
SCN4AIVFMILLSSGALAFEDIYIEQRRVIRTILE>Y<ADKVFTYIFIMEMLLKWVAYGF----KVYF1093
SCN5AIIFMILLSSGALAFEDIYLEERKTIKVLLE>Y<ADKMFTYVFVLEMLLKWVAYGF----KKYF1267
SCN7AIGLVTLLSTGTLAFEDIYMDQRKTIKILLE>Y<ADMIFTYIFILEMLLKWMAYGF----KAYF996
SCN8AIIFMILLSSGALAFEDIYIEQRKTIRTILE>Y<ADKVFTYIFILEMLLKWTAYGF----VKFF1260
SCN9AIVLMILLSSGALAFEDIYIERKKTIKIILE>Y<ADKIFTYIFILEMLLKWIAYGY----KTYF1243
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 935 for CACNA1C.