Paralogue Annotation for CACNA1C residue 941

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 941
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 941

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT1260PDravet syndromeHigh9 20431604

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.



CACNA1CLSSISLAAEDPV-QHTSFRNHILFYFDIVF>T<TIFTIEIALKMTAYGAFLHKGSFCRNYFNI971
CACNA1AMSSIALAAEDPV-QPNAPRNNVLRYFDYVF>T<GVFTFEMVIKMIDLGLVLHQGAYFRDLWNI1315
CACNA1BLSSIALAAEDPV-RTDSPRNNALKYLDYIF>T<GVFTFEMVIKMIDLGLLLHPGAYFRDLWNI1222
CACNA1DLSSAALAAEDPI-RSHSFRNTILGYFDYAF>T<AIFTVEILLKMTTFGAFLHKGAFCRNYFNL977
CACNA1EASSIALAAEDPV-LTNSERNKVLRYFDYVF>T<GVFTFEMVIKMIDQGLILQDGSYFRDLWNI1224
CACNA1FLSSVSLAAEDPI-RAHSFRNHILGYFDYAF>T<SIFTVEILLKMTVFGAFLHRGSFCRSWFNM942
CACNA1GLNCITIAMERPKIDPHSAERIFLTLSNYIF>T<AVFLAEMTVKVVALGWCFGEQAYLRSSWNV1348
CACNA1HLNCVTIALERPDIDPGSTERVFLSVSNYIF>T<AIFVAEMMVKVVALGLLSGEHAYLQSSWNL1366
CACNA1ILNCITIALERPQIEAGSTERIFLTVSNYIF>T<AIFVGEMTLKVVSLGLYFGEQAYLRSSWNV1242
CACNA1SLSSAALAAEDPI-RADSMRNQILKHFDIGF>T<SVFTVEIVLKMTTYGAFLHKGSFCRNYFNM870
SCN10ALSSGSLAFEDYYLDQKPTVKALLEYTDRVF>T<FIFVFEMLLKWVAYGF----KKYFTNAWCW1220
SCN11ALSSGALIFEDVHLENQPKIQELLNCTDIIF>T<HIFILEMVLKWVAFGF----GKYFTSAWCC1124
SCN1ALSSGALAFEDIYIDQRKTIKTMLEYADKVF>T<YIFILEMLLKWVAYGY----QTYFTNAWCW1286
SCN2ALSSGALAFEDIYIEQRKTIKTMLEYADKVF>T<YIFILEMLLKWVAYGF----QVYFTNAWCW1276
SCN3ALSSGALAFEDIYIEQRKTIKTMLEYADKVF>T<YIFILEMLLKWVAYGF----QTYFTNAWCW1274
SCN4ALSSGALAFEDIYIEQRRVIRTILEYADKVF>T<YIFIMEMLLKWVAYGF----KVYFTNAWCW1099
SCN5ALSSGALAFEDIYLEERKTIKVLLEYADKMF>T<YVFVLEMLLKWVAYGF----KKYFTNAWCW1273
SCN7ALSTGTLAFEDIYMDQRKTIKILLEYADMIF>T<YIFILEMLLKWMAYGF----KAYFSNGWYR1002
SCN8ALSSGALAFEDIYIEQRKTIRTILEYADKVF>T<YIFILEMLLKWTAYGF----VKFFTNAWCW1266
SCN9ALSSGALAFEDIYIERKKTIKIILEYADKIF>T<YIFILEMLLKWIAYGY----KTYFTNAWCW1249
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 941 for CACNA1C.