Paralogue Annotation for CACNA1C residue 462

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 462
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 462

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AF530VLong QT syndromeLow2 19716085

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--------------------------EEKP>R<------N--MSM---P-----T-----SET471
CACNA1A-----------------------PFDG-AL>R<------R--TTI---K-K---------SKT431
CACNA1B-----------------------PLDA-VL>K<------R--AAT---K-K---------SRN427
CACNA1D--------------------------E-GK>R<------N--TSM---P-----T-----SET471
CACNA1E-----------------------L--E-VL>R<------R--ATI---K-R---------SRT420
CACNA1F--------------------------E-G->R<AGHRPQL--AEL---T-NRRRGRLRWFSHS457
CACNA1GHHHHHHHHYHL-GNGTLRAPRASPEIQ-DR>D<------ANGSRRLMLP-P---------PS-538
CACNA1HHHHHHHHHYHF-SHGSPRRPGPEPGAC-DT>R<------LVR-----AG-A---------PPS558
CACNA1IGRHLGSRHCQT-LHGP-------------->-<----------------------------A-513
CACNA1S------------------------------>-<------S--LDE---G-----G-----SDT395
SCN10A--------RRMSFLGLASGKRRASHG--SV>F<------H--FRS---PGR-DIS-----LPE518
SCN11A------------------------------>-<------------------------------
SCN1AKRYSSPHQSLLSIRGSLFSPRRNSRT--SL>F<------S--FRG---RAK-DVG-----SEN588
SCN2AKRFSSPHQSLLSIRGSLFSPRRNSRA--SL>F<------S--FRG---RAK-DIG-----SEN591
SCN3AKKFCSPHQSLLSIRGSLFSPRRNSKT--SI>F<------S--FRG---RAK-DVG-----SEN591
SCN4A------------------------------>-<------------------------------
SCN5A------HLSLTRGLSRTSMKPRSSRG--SI>F<------T--FRR-----R-DLG-----SEA541
SCN7A------------------------------>-<------------------------------
SCN8ARKFSIMNQSLLSIPGSPFLSRHNSKS--SI>F<------S--FRGPG-RFR-DPG-----SEN581
SCN9AKRLSTPNQSPLSIRGSLFSARRSSRT--SL>F<------S--FKG---RGR-DIG-----SET568
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Arg462Glyc.1384C>G UnknownSIFT:
Polyphen:
p.Arg462Glnc.1385G>A UnknownSIFT:
Polyphen: