Paralogue Annotation for CACNA1C residue 469

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 469
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 469

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD674GMyoclonic epilepsy of infancyLow1 17347258

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.



CACNA1CKPR------N--MSM---P-----T----->S<ET----------------------------471
CACNA1AALR------R--TTI---K-K--------->S<KT----------------------------431
CACNA1BVLK------R--AAT---K-K--------->S<RN----------------------------427
CACNA1DGKR------N--TSM---P-----T----->S<ET----------------------------471
CACNA1EVLR------R--ATI---K-R--------->S<RT----------------------------420
CACNA1FG-RAGHRPQL--AEL---T-NRRRGRLRWF>S<HS----------------------------457
CACNA1GDRD------ANGSRRLMLP-P--------->P<S-TPALSGAPPGGAESVHSFYHADCHLEPV566
CACNA1HDTR------LVR-----AG-A--------->P<PSPPSPGRGPPD-AESVHSIYHADCHIEGP585
CACNA1I------------------------------>-<A--------SPGNDHSGRELCPQHSPLDAT534
CACNA1S---------S--LDE---G-----G----->S<DT----------------------------395
SCN10ASVF------H--FRS---PGR-DIS----->L<PE-------GVTDDG-VFPGDHESHRGSLL538
SCN11A------------------------------>-<------------------------------
SCN1ASLF------S--FRG---RAK-DVG----->S<EN-------DFADDEHSTFEDNESRRDSLF609
SCN2ASLF------S--FRG---RAK-DIG----->S<EN-------DFADDEHSTFEDNDSRRDSLF612
SCN3ASIF------S--FRG---RAK-DVG----->S<EN-------DFADDEHSTFEDSESRRDSLF612
SCN4A------------------------------>-<------------------------------
SCN5ASIF------T--FRR-----R-DLG----->S<EA-------DFADDENSTAGESESHHTSLL562
SCN7A------------------------------>-<------------------------------
SCN8ASIF------S--FRGPG-RFR-DPG----->S<EN-------EFADDEHSTVEESEGRRDSLF602
SCN9ASLF------S--FKG---RGR-DIG----->S<ET-------EFADDEHSIFGDNESRRGSLF589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S469Rc.1407T>G Putative BenignSIFT: tolerated
Polyphen: benign
p.S469Nc.1406G>A Putative BenignSIFT:
Polyphen: