Paralogue Annotation for CACNA1C residue 2138

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2138
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 2138

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV2016MBrugada syndromeMedium4 24895455, 24895455

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--GCV-----RARGRPSEEELQDSRVYVSS>L<2138
CACNA1A-----------------RSPSEGREHMAHR>Q<2261
CACNA1B-----------SGGR--ARHSYHHPDQDHW>C<2340
CACNA1D--E-E-----PDPGR-DEEDLADEMICITT>L<2181
CACNA1E--GPG-----PGMMCGAVNNLLSDTEEDDK>C<2313
CACNA1F--E-E-----SILSRFDEEDLGDEMACVHA>L<1977
CACNA1G------------------------------>P<2377
CACNA1HVPQ-CPLEKPGSPSA--TPA-PG-GGADDP>V<2353
CACNA1I---------PQPLPG--ELE-PGDAASKRK>R<2223
CACNA1S----G-----SSLGSLDQHQGSQETLIPPR>L<1873
SCN10A---------------------TSMELIAPG>P<1956
SCN11A------------------------------>D<1791
SCN1A---------------------KG------->K<2009
SCN2A---------------------KGKDIRESK>K<2005
SCN3A---------------------KGKEVRENQ>K<2000
SCN4A---------------------VRPGVKESL>V<1836
SCN5A-----------------DFPPSPDRDRESI>V<2016
SCN7A--------------------------IQSQ>I<1682
SCN8A---------------------RQKEVRESK>C<1980
SCN9A---------------------KGKDSKESK>K<1977
cons                              > <

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 2138 for CACNA1C.