Paralogue Annotation for CACNA1C residue 1081

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1081
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1081

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC1396GMyoclonic epilepsy of infancyMedium5 17347258
SCN1AC1396YDravet syndrome C ?Medium5 21248271
SCN4AC1209FMyopathy, congenitalMedium5 26700687

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.



CACNA1CFKGKLYTCSDSSKQTEAECKGNYITYKDGE>V<DHP-IIQ--PRSWENSKFDFDNVLAAMMAL1108
CACNA1AFKGKFFHCTDESKEFEKDCRGKYLLYEKNE>V<K----AR--DREWKKYEFHYDNVLWALLTL1453
CACNA1BFKGKFFYCTDESKELERDCRGQYLDYEKEE>V<E----AQ--PRQWKKYDFHYDNVLWALLTL1359
CACNA1DFKGKFYRCTDEAKSNPEECRGLFILYKDGD>V<DSP-VVR--ERIWQNSDFNFDNVLSAMMAL1114
CACNA1EFKGKFFYCTDSSKDTEKECIGNYVDHEKNK>M<E----VK--GREWKRHEFHYDNIIWALLTL1365
CACNA1FFKGKFYTCTDEAKHTPQECKGSFLVYPDGD>V<SRP-LVR--ERLWVNSDFNFDNVLSAMMAL1079
CACNA1GFKGKFFVCQGED---------TRNITNKSD>C<A----EA--SYRWVRHKYNFDNLGQALMSL1479
CACNA1HFKGKFYYCEGPD---------TRNISTKAQ>C<R----AA--HYRWVRRKYNFDNLGQALMSL1497
CACNA1IFKGKFYHCLGVD---------TRNITNRSD>C<M----AA--NYRWVHHKYNFDNLGQALMSL1373
CACNA1SFKGKFFRCTDLSKMTEEECRGYYYVYKDGD>P<MQI-ELR--HREWVHSDFHFDNVLSAMMSL1007
SCN10AFAGKFWRCINYTDGEF-SLVPLSIVNNKSD>C<KIQNSTGS--FFWVNVKVNFDNVAMGYLAL1360
SCN11AFSGKFGKCINGTDSVI----NYTIITNKSQ>C<ESGN------FSWINQKVNFDNVGNAYLAL1250
SCN1AFAGKFYHCINTTTGDR---FDIEDVNNHTD>C<LKLIERNET-ARWKNVKVNFDNVGFGYLSL1425
SCN2AFAGKFYHCINYTTGEM---FDVSVVNNYSE>C<KALIESNQT-ARWKNVKVNFDNVGLGYLSL1415
SCN3AFAGKFYHCVNMTTGNM---FDISDVNNLSD>C<QALGK--Q--ARWKNVKVNFDNVGAGYLAL1410
SCN4AFAGKFYYCINTTTSER---FDISEVNNKSE>C<ESLMHTGQ--VRWLNVKVNYDNVGLGYLSL1237
SCN5AFAGKFGRCINQTEGDL-P-LNYTIVNNKSQ>C<ESLNLTGE--LYWTKVKVNFDNVGAGYLAL1412
SCN7AFAGRFYECIDPTSGER---FPSSEVMNKSR>C<ESLLFNES--MLWENAKMNFDNVGNGFLSL1135
SCN8AFAGKYHYCFNETSEIR---FEIEDVNNKTE>C<EKLMEGNNTEIRWKNVKINFDNVGAGYLAL1406
SCN9AFAGKFYECINTTDGSR---FPASQVPNRSE>C<FALMNVSQN-VRWKNLKVNFDNVGLGYLSL1388
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1081 for CACNA1C.