Paralogue Annotation for CACNA1C residue 955

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 955
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 955

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY1274NGeneralized epilepsy with febrile seizures plusHigh9 20682179
SCN1AY1274SDravet syndromeHigh9 26096185

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.



CACNA1CHTSFRNHILFYFDIVFTTIFTIEIALKMTA>Y<GAFLHKGSFCRNYFNILDLLVVSVSLISF-984
CACNA1APNAPRNNVLRYFDYVFTGVFTFEMVIKMID>L<GLVLHQGAYFRDLWNILDFIVVSGALVAFA1329
CACNA1BTDSPRNNALKYLDYIFTGVFTFEMVIKMID>L<GLLLHPGAYFRDLWNILDFIVVSGALVAFA1236
CACNA1DSHSFRNTILGYFDYAFTAIFTVEILLKMTT>F<GAFLHKGAFCRNYFNLLDMLVVGVSLVSF-990
CACNA1ETNSERNKVLRYFDYVFTGVFTFEMVIKMID>Q<GLILQDGSYFRDLWNILDFVVVVGALVAFA1238
CACNA1FAHSFRNHILGYFDYAFTSIFTVEILLKMTV>F<GAFLHRGSFCRSWFNMLDLLVVSVSLISF-955
CACNA1GPHSAERIFLTLSNYIFTAVFLAEMTVKVVA>L<GWCFGEQAYLRSSWNVLDGLLVLISVIDIL1362
CACNA1HPGSTERVFLSVSNYIFTAIFVAEMMVKVVA>L<GLLSGEHAYLQSSWNLLDGLLVLVSLVDIV1380
CACNA1IAGSTERIFLTVSNYIFTAIFVGEMTLKVVS>L<GLYFGEQAYLRSSWNVLDGFLVFVSIIDIV1256
CACNA1SADSMRNQILKHFDIGFTSVFTVEIVLKMTT>Y<GAFLHKGSFCRNYFNMLDLLVVAVSLISM-883
SCN10AQKPTVKALLEYTDRVFTFIFVFEMLLKWVA>Y<GF----KKYFTNAWCWLDFLIVNISLISLT1234
SCN11ANQPKIQELLNCTDIIFTHIFILEMVLKWVA>F<GF----GKYFTSAWCCLDFIIVIVSVTTLI1138
SCN1AQRKTIKTMLEYADKVFTYIFILEMLLKWVA>Y<GY----QTYFTNAWCWLDFLIVDVSLVSLT1300
SCN2AQRKTIKTMLEYADKVFTYIFILEMLLKWVA>Y<GF----QVYFTNAWCWLDFLIVDVSLVSLT1290
SCN3AQRKTIKTMLEYADKVFTYIFILEMLLKWVA>Y<GF----QTYFTNAWCWLDFLIVDVSLVSLV1288
SCN4AQRRVIRTILEYADKVFTYIFIMEMLLKWVA>Y<GF----KVYFTNAWCWLDFLIVDVSIISLV1113
SCN5AERKTIKVLLEYADKMFTYVFVLEMLLKWVA>Y<GF----KKYFTNAWCWLDFLIVDVSLVSLV1287
SCN7AQRKTIKILLEYADMIFTYIFILEMLLKWMA>Y<GF----KAYFSNGWYRLDFVVVIVFCLSLI1016
SCN8AQRKTIRTILEYADKVFTYIFILEMLLKWTA>Y<GF----VKFFTNAWCWLDFLIVAVSLVSLI1280
SCN9ARKKTIKIILEYADKIFTYIFILEMLLKWIA>Y<GY----KTYFTNAWCWLDFLIVDVSLVTLV1263
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 955 for CACNA1C.