Paralogue Annotation for CACNA1C residue 857

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 857
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 857

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AW1095XBrugada syndrome and epilepsyMedium1 23538271
SCN5AW1095CLong QT syndromeMedium1 26669661

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-------------------------EMPVG>P<RP----------------------------859
CACNA1AQDPPLAEDIDNMKNNKLATAESAAPHGSLG>H<AGLPQSPAKMGNSTDPGPMLAIPAMATNPQ1118
CACNA1B----------------------EKE----->-<--ATEKEAEIVEADKEKELR-NHQPREPHC1028
CACNA1D-------------------------EVPAG>P<RP----------------------------865
CACNA1E------------------------------>-<--MGRVI-------S------QSEPDLSCI1056
CACNA1F-------------------------EEEGA>G<GV----------------------------830
CACNA1G-------------------------NLSKG>E<RV----------------------------1236
CACNA1H-------------------------EDSCC>L<RL----------------------------1254
CACNA1I-------------------------DYTLC>F<RV----------------------------1130
CACNA1S-------------------------EIPLS>P<RP----------------------------758
SCN10A------------------------------>-<------------------------------
SCN11A------------------------------>-<---HQENKK------PT---------SQRV961
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN5A--------------GGPEAP-----PDSRT>W<SQVSATASS------EA---------EASA1110
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P857Rc.2570C>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet. 2013 6(3):279-89. 23677916
p.P857Lc.2570C>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet. 2013 6(3):279-89. 23677916