Paralogue Annotation for CACNA1C residue 2088

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2088
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 2088

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1SP1839SExertional heat illnessLow2 25658027, 27153395

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.



CACNA1CTT-QELADACDMTIEEMESAADNILSGGAP>Q<SPNGALLPFVNCRDAG---QDRAGGEEDA-2114
CACNA1A------------------------------>-<------------------------------
CACNA1BQR-LDSEASVHALPEDTLTFEEAVATNSGR>S<SRTSYVSSLTSQSHPL---RRVPNGYHCTL2319
CACNA1DTK-HEIADACDLTIDEMESAASTLLNGNVR>P<RANGDVGPLSHRQDYE---LQDFGPGYSD-2159
CACNA1ELH-EDSHAS-DCGEEETLTFEAAVATSLGR>S<NTIGSAPPLRHSW-------QMPNGHYRRR2286
CACNA1FAK-QEIADACRLTLDEMDNAASDLLAQGTS>S<-------------------------LYSD-1954
CACNA1GCLRRRAPSSDSKDPLASGPPDSMAASPSPK>K<DVLSLSGLSSDPADLD--------------2376
CACNA1HHLTVPSFAFEPLDLGVPSGDPFLDGSHSVT>P<ESRASSSGAIVPLEPPESEPPMPVGDPPEK2320
CACNA1ITPARKFSSTSSLAAPGRPHAAALAHGLARS>P<SWAADRSKDPPGRAPLPMGLGPLAPP----2204
CACNA1STG-QALADACQMEPEEVEIMATELLKGREA>P<EGMASSLGCLNL------------------1851
SCN10A------------------------------>-<------------------------------
SCN11A------------------------------>-<------------------------------
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN5A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 2088 for CACNA1C.