Paralogue Annotation for CACNA1C residue 848

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 848
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 848

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AT1069MLong QT syndromeLow2 15840476

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.



CACNA1CENEDK----SPYPNP---ET-----TGEED>E<EEP---------------------------851
CACNA1A------------------------------>-<--------RHGAPATYEGDARREDKERRHR1028
CACNA1B------------------------------>-<--------RARHKAQPAHEAVEKETT----998
CACNA1DEDEDK----DPYPPC---DVPVGEEEEEEE>E<DEP---------------------------857
CACNA1E--------------EADTPL-----VLPHP>E<LEVGKHVVLTEQEPEGSSEQALLGNVQLD-1041
CACNA1FEEE-G----ARREGA---DMEEEEEEEEEE>E<EEE---------------------------822
CACNA1GGRLARALRPDD---P---PL-----DGDDA>D<DEG---------------------------1228
CACNA1HLPSDFFLRIDS---H---RE-----DAAEL>D<DDS---------------------------1246
CACNA1IIAKDVFTKMGD-------RG-----DRGED>E<EEI---------------------------1122
CACNA1SVNEVK----DPYPSA---DF-----PGDDE>E<DEP---------------------------750
SCN10AG-----------------E-----TWKDES>V<PQV-------------PA---E--------1076
SCN11A------------------------NAQRIT>Q<PEP-------------EQQAYEL-------949
SCN1A------------------------DFSSES>D<LEE-------------SK---E--------1143
SCN2A------------------------EFSSES>D<MEE-------------SK---E--------1133
SCN3A------------------------EFSSES>E<LEE-------------SK---E--------1131
SCN4A------------------------ETDTFS>E<PED-------------SKKPPQ--------955
SCN5A------------------------EENSLG>T<EEE-------------SSKQQESQPVS---1083
SCN7A------------------------EIQSKS>G<DGG-------------SK---E--------864
SCN8A------------------------DVSSES>D<PEG-------------SK---D--------1124
SCN9A------------------------ELSSDS>D<SEY-------------SK---V--------1106
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 848 for CACNA1C.