Paralogue Annotation for CACNA1C residue 1085

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1085
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1085

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN10AS1337TBrugada syndromeLow3 24998131, 25691538

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.



CACNA1CYTCSDSSKQTEAECKGNYITYKDGEVDHP->I<IQ--PRSWENSKFDFDNVLAAMMALFTVST1113
CACNA1AFHCTDESKEFEKDCRGKYLLYEKNEVK--->-<AR--DREWKKYEFHYDNVLWALLTLFTVST1458
CACNA1BFYCTDESKELERDCRGQYLDYEKEEVE--->-<AQ--PRQWKKYDFHYDNVLWALLTLFTVST1364
CACNA1DYRCTDEAKSNPEECRGLFILYKDGDVDSP->V<VR--ERIWQNSDFNFDNVLSAMMALFTVST1119
CACNA1EFYCTDSSKDTEKECIGNYVDHEKNKME--->-<VK--GREWKRHEFHYDNIIWALLTLFTVST1370
CACNA1FYTCTDEAKHTPQECKGSFLVYPDGDVSRP->L<VR--ERLWVNSDFNFDNVLSAMMALFTVST1084
CACNA1GFVCQGED---------TRNITNKSDCA--->-<EA--SYRWVRHKYNFDNLGQALMSLFVLAS1484
CACNA1HYYCEGPD---------TRNISTKAQCR--->-<AA--HYRWVRRKYNFDNLGQALMSLFVLSS1502
CACNA1IYHCLGVD---------TRNITNRSDCM--->-<AA--NYRWVHHKYNFDNLGQALMSLFVLAS1378
CACNA1SFRCTDLSKMTEEECRGYYYVYKDGDPMQI->E<LR--HREWVHSDFHFDNVLSAMMSLFTVST1012
SCN10AWRCINYTDGEF-SLVPLSIVNNKSDCKIQN>S<TGS--FFWVNVKVNFDNVAMGYLALLQVAT1365
SCN11AGKCINGTDSVI----NYTIITNKSQCESGN>-<-----FSWINQKVNFDNVGNAYLALLQVAT1255
SCN1AYHCINTTTGDR---FDIEDVNNHTDCLKLI>E<RNET-ARWKNVKVNFDNVGFGYLSLLQVAT1430
SCN2AYHCINYTTGEM---FDVSVVNNYSECKALI>E<SNQT-ARWKNVKVNFDNVGLGYLSLLQVAT1420
SCN3AYHCVNMTTGNM---FDISDVNNLSDCQALG>K<--Q--ARWKNVKVNFDNVGAGYLALLQVAT1415
SCN4AYYCINTTTSER---FDISEVNNKSECESLM>H<TGQ--VRWLNVKVNYDNVGLGYLSLLQVAT1242
SCN5AGRCINQTEGDL-P-LNYTIVNNKSQCESLN>L<TGE--LYWTKVKVNFDNVGAGYLALLQVAT1417
SCN7AYECIDPTSGER---FPSSEVMNKSRCESLL>F<NES--MLWENAKMNFDNVGNGFLSLLQVAT1140
SCN8AHYCFNETSEIR---FEIEDVNNKTECEKLM>E<GNNTEIRWKNVKINFDNVGAGYLALLQVAT1411
SCN9AYECINTTDGSR---FPASQVPNRSECFALM>N<VSQN-VRWKNLKVNFDNVGLGYLSLLQVAT1393
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I1085Nc.3254T>A Putative BenignSIFT:
Polyphen: