Paralogue Annotation for CACNA1C residue 2068

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2068
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 2068

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1Fp.R1930HMRXLow3

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.



CACNA1C--------------PKFIEVTT-QELADAC>D<MTIEEMESAADNILSGGAPQSPNGALLPFV2098
CACNA1A------------------------------>-<------------------------------
CACNA1B--------------SDPYLGQR-LDSEASV>H<ALPEDTLTFEEAVATNSGRSSRTSYVSSLT2302
CACNA1D--------------PKFVSATK-HEIADAC>D<LTIDEMESAASTLLNGNVRPRANGDVGPLS2143
CACNA1E--------------SEPYLALH-EDSHAS->D<CGEEETLTFEAAVATSLGRSNTIGSAPPLR2273
CACNA1F--------------PRFVALAK-QEIADAC>R<LTLDEMDNAASDLLAQGTSS----------1950
CACNA1G--------------PPSPGICLRRRAPSSD>S<KDPLASGPPDSMAASPSPKKDVLSLSGLSS2370
CACNA1HAGGDPAAKGERWGQASCRAEHLTVPSFAFE>P<LDLGVPSGDPFLDGSHSVTPESRASSSGAI2300
CACNA1I--------------PPAPGLTPARKFSSTS>S<LAAPGRPHAAALAHGLARSPSWAADRSKDP2188
CACNA1S--------------ANFIMATG-QALADAC>Q<MEPEEVEIMATELLKGREAPEGMASSLGCL1849
SCN10A------------------------------>-<------------------------------
SCN11A------------------------------>-<------------------------------
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN5A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D2068Ac.6203A>C Putative BenignSIFT:
Polyphen: