Paralogue Annotation for CACNA1C residue 1595

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1595
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1595

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN8AN1877SBenign familial infantile epilepsyMedium4 27210545

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.



CACNA1CALRIKTEG---NLEQANEELRAIIKKIW-K>R<T-SMKLLDQVVPPAGDDEVTVGKFYATFLI1624
CACNA1AALDIKIAKGGADKQQMDAELRKEMMAIW-P>N<L-SQKTLDLLVTPHKSTDLTVGKIYAAMMI1962
CACNA1BALEIKLAPAGTKQHQCDAELRKEISVVW-A>N<L-PQKTLDLLVPPHKPDEMTVGKVYAALMI1861
CACNA1DALKIKTEG---NLEQANEELRAVIKKIW-K>K<T-SMKLLDQVVPPAGDDEVTVGKFYATFLI1632
CACNA1EALDIKIAKGGADRQQLDSELQKETLAIW-P>H<L-SQKMLDLLVPMPKASDLTVGKIYAAMMI1874
CACNA1FSLKIKTEG---NLEQANQELRIVIKKIW-K>R<M-KQKLLDEVIPPPDEEEVTVGKFYATFLI1589
CACNA1GLFDTI---S--LLIQGSLEWELKLMDEL-A>G<PGGQPSAFPSAPSLGGSDP-----QIPLAE1980
CACNA1HKV----------------SVSRML-SLPND>S<YM----FRPVVPASAPHPR-----PLQEVE1952
CACNA1ISL----------------EGELTIIDNL-S>G<SI----FHHYSSPAGCKKCHHDKQEVQLAE1852
CACNA1SALKIKTEG---NFEQANEELRAIIKKIW-K>R<T-SMKLLDQVIPPIGDDEVTVGKFYATFLI1529
SCN10AVLGES--G---ELDSLKANMEEKFMA---T>N<L-SKSSYEPIATTLRWKQEDIS----ATVI1858
SCN11AVLGGS--D---GLDSMKAMMEEKFME---A>N<P-LKKLYEPIVTTTKRKEEERG----AAII1740
SCN1AVLGES--G---EMDALRIQMEERFMA---S>N<P-SKVSYQPITTTLKRKQEEVS----AVII1922
SCN2AVLGES--G---EMDALRIQMEERFMA---S>N<P-SKVSYEPITTTLKRKQEEVS----AIII1912
SCN3AVLGES--G---EMDALRIQMEDRFMA---S>N<P-SKVSYEPITTTLKRKQEEVS----AAII1907
SCN4AVLGDS--G---EMDALKQTMEEKFMA---A>N<P-SKVSYEPITTTLKRKHEEVC----AIKI1734
SCN5AVLGES--G---EMDALKIQMEEKFMA---A>N<P-SKISYEPITTTLRRKHEEVS----AMVI1908
SCN7AVMGQD--V---RMEKVVSEIESGFLL---A>N<P-FKITCEPITTTLKRKQEAVS----ATII1632
SCN8AVLGDS--G---ELDILRQQMEERFVA---S>N<P-SKVSYEPITTTLRRKQEEVS----AVVL1902
SCN9AVLGES--G---EMDSLRSQMEERFMS---A>N<P-SKVSYEPITTTLKRKQEDVS----ATVI1885
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1595 for CACNA1C.