Paralogue Annotation for CACNA1C residue 956

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 956
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 956

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG1262SBrugada syndromeHigh9 15338453, 24136861
SCN1AG1275VDravet syndromeHigh9 18930999
CACNA1EG1209SAutismHigh9 22495309
SCN1AG1275AEpileptic encephalopathyHigh9 23647072
CACNA1FG927ANight blindness, congenital stationary 2High9 23714322

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.



CACNA1CTSFRNHILFYFDIVFTTIFTIEIALKMTAY>G<AFLHKGSFCRNYFNILDLLVVSVSLISF--984
CACNA1ANAPRNNVLRYFDYVFTGVFTFEMVIKMIDL>G<LVLHQGAYFRDLWNILDFIVVSGALVAFAF1330
CACNA1BDSPRNNALKYLDYIFTGVFTFEMVIKMIDL>G<LLLHPGAYFRDLWNILDFIVVSGALVAFAF1237
CACNA1DHSFRNTILGYFDYAFTAIFTVEILLKMTTF>G<AFLHKGAFCRNYFNLLDMLVVGVSLVSF--990
CACNA1ENSERNKVLRYFDYVFTGVFTFEMVIKMIDQ>G<LILQDGSYFRDLWNILDFVVVVGALVAFAL1239
CACNA1FHSFRNHILGYFDYAFTSIFTVEILLKMTVF>G<AFLHRGSFCRSWFNMLDLLVVSVSLISF--955
CACNA1GHSAERIFLTLSNYIFTAVFLAEMTVKVVAL>G<WCFGEQAYLRSSWNVLDGLLVLISVIDILV1363
CACNA1HGSTERVFLSVSNYIFTAIFVAEMMVKVVAL>G<LLSGEHAYLQSSWNLLDGLLVLVSLVDIVV1381
CACNA1IGSTERIFLTVSNYIFTAIFVGEMTLKVVSL>G<LYFGEQAYLRSSWNVLDGFLVFVSIIDIVV1257
CACNA1SDSMRNQILKHFDIGFTSVFTVEIVLKMTTY>G<AFLHKGSFCRNYFNMLDLLVVAVSLISM--883
SCN10AKPTVKALLEYTDRVFTFIFVFEMLLKWVAY>G<F----KKYFTNAWCWLDFLIVNISLISLTA1235
SCN11AQPKIQELLNCTDIIFTHIFILEMVLKWVAF>G<F----GKYFTSAWCCLDFIIVIVSVTTLI-1138
SCN1ARKTIKTMLEYADKVFTYIFILEMLLKWVAY>G<Y----QTYFTNAWCWLDFLIVDVSLVSLTA1301
SCN2ARKTIKTMLEYADKVFTYIFILEMLLKWVAY>G<F----QVYFTNAWCWLDFLIVDVSLVSLTA1291
SCN3ARKTIKTMLEYADKVFTYIFILEMLLKWVAY>G<F----QTYFTNAWCWLDFLIVDVSLVSLVA1289
SCN4ARRVIRTILEYADKVFTYIFIMEMLLKWVAY>G<F----KVYFTNAWCWLDFLIVDVSIISLVA1114
SCN5ARKTIKVLLEYADKMFTYVFVLEMLLKWVAY>G<F----KKYFTNAWCWLDFLIVDVSLVSLVA1288
SCN7ARKTIKILLEYADMIFTYIFILEMLLKWMAY>G<F----KAYFSNGWYRLDFVVVIVFCLSLIG1017
SCN8ARKTIRTILEYADKVFTYIFILEMLLKWTAY>G<F----VKFFTNAWCWLDFLIVAVSLVSLIA1281
SCN9AKKTIKIILEYADKIFTYIFILEMLLKWIAY>G<Y----KTYFTNAWCWLDFLIVDVSLVTLVA1264
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 956 for CACNA1C.