Paralogue Annotation for CACNA1C residue 1822

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1822
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1822

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AR2136CEpisodic ataxia 2Low1 15173248

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.



CACNA1CHGPPLSPAIR--VQEVAWKLSSNRCHSRES>Q<AAMAGQEET------------SQDETYEVK1840
CACNA1ATISDTSPMKRSASVL-------G---PKAR>R<LDDYSLERV---------------PPEENQ2150
CACNA1B-VTDASPMKRSISTL-------AQ-RPRGT>H<LCSTTPDRP---------------PPSQAS2049
CACNA1DHKHDREPQRRSSVKRTRYYETYIRSDSGDE>Q<LPTICREDPEIHGYFRDPHCLGEQEYFSSE1869
CACNA1EVVTDPSSMRRSFSTI-------RDKRSN-->-<--SSWLEEF---------------SMERSS2043
CACNA1F-----------------ALIFTIPEEGNSQ>P<KGTKGQNKQ------------DEDEEVPDR1755
CACNA1GLRRQAAIRTDSLDVQ-------GL-GSRED>L<LAEVSGPSP------------PLARAYSFW2170
CACNA1H------------------------------>-<------------------------------
CACNA1I-----LSDSP-------------------->-<------------------------------2042
CACNA1S------------------------------>-<----------------------------AN1667
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.Q1822Ec.5464C>G Putative BenignSIFT:
Polyphen: