Paralogue Annotation for CACNA1C residue 1599

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1599
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1599

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI1887FCardiomyopathy, hypertrophicMedium5 26656175

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.



CACNA1CTEG---NLEQANEELRAIIKKIW-KRT-SM>K<LLDQVVPPAGDDEVTVGKFYATFLIQEYF-1628
CACNA1AIAKGGADKQQMDAELRKEMMAIW-PNL-SQ>K<TLDLLVTPHKSTDLTVGKIYAAMMIMEYY-1966
CACNA1BLAPAGTKQHQCDAELRKEISVVW-ANL-PQ>K<TLDLLVPPHKPDEMTVGKVYAALMIFDFY-1865
CACNA1DTEG---NLEQANEELRAVIKKIW-KKT-SM>K<LLDQVVPPAGDDEVTVGKFYATFLIQDYF-1636
CACNA1EIAKGGADRQQLDSELQKETLAIW-PHL-SQ>K<MLDLLVPMPKASDLTVGKIYAAMMIMDYY-1878
CACNA1FTEG---NLEQANQELRIVIKKIW-KRM-KQ>K<LLDEVIPPPDEEEVTVGKFYATFLIQDYF-1593
CACNA1G---S--LLIQGSLEWELKLMDEL-AGPGGQ>P<SAFPSAPSLGGSDP-----QIPLAEMEAL-1984
CACNA1H-------------SVSRML-SLPNDSYM-->-<-FRPVVPASAPHPR-----PLQEVEMETYG1957
CACNA1I-------------EGELTIIDNL-SGSI-->-<-FHHYSSPAGCKKCHHDKQEVQLAETEAF-1856
CACNA1STEG---NFEQANEELRAIIKKIW-KRT-SM>K<LLDQVIPPIGDDEVTVGKFYATFLIQEHF-1533
SCN10A--G---ELDSLKANMEEKFMA---TNL-SK>S<SYEPIATTLRWKQEDIS----ATVIQKAY-1862
SCN11A--D---GLDSMKAMMEEKFME---ANP-LK>K<LYEPIVTTTKRKEEERG----AAIIQKAF-1744
SCN1A--G---EMDALRIQMEERFMA---SNP-SK>V<SYQPITTTLKRKQEEVS----AVIIQRAY-1926
SCN2A--G---EMDALRIQMEERFMA---SNP-SK>V<SYEPITTTLKRKQEEVS----AIIIQRAY-1916
SCN3A--G---EMDALRIQMEDRFMA---SNP-SK>V<SYEPITTTLKRKQEEVS----AAIIQRNF-1911
SCN4A--G---EMDALKQTMEEKFMA---ANP-SK>V<SYEPITTTLKRKHEEVC----AIKIQRAY-1738
SCN5A--G---EMDALKIQMEEKFMA---ANP-SK>I<SYEPITTTLRRKHEEVS----AMVIQRAF-1912
SCN7A--V---RMEKVVSEIESGFLL---ANP-FK>I<TCEPITTTLKRKQEAVS----ATIIQRAY-1636
SCN8A--G---ELDILRQQMEERFVA---SNP-SK>V<SYEPITTTLRRKQEEVS----AVVLQRAY-1906
SCN9A--G---EMDSLRSQMEERFMS---ANP-SK>V<SYEPITTTLKRKQEDVS----ATVIQRAY-1889
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1599 for CACNA1C.