Paralogue Annotation for CACNA1C residue 1589

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1589
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1589

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AF1705IMyotoniaLow3 15774523, 18690054, 24324661

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.



CACNA1CLFALVRTALRIKTEG---NLEQANEELRAI>I<KKIW-KRT-SMKLLDQVVPPAGDDEVTVGK1617
CACNA1ALMALIRTALDIKIAKGGADKQQMDAELRKE>M<MAIW-PNL-SQKTLDLLVTPHKSTDLTVGK1955
CACNA1BLMALIRTALEIKLAPAGTKQHQCDAELRKE>I<SVVW-ANL-PQKTLDLLVPPHKPDEMTVGK1854
CACNA1DLFALVRTALKIKTEG---NLEQANEELRAV>I<KKIW-KKT-SMKLLDQVVPPAGDDEVTVGK1625
CACNA1ELMALIRTALDIKIAKGGADRQQLDSELQKE>T<LAIW-PHL-SQKMLDLLVPMPKASDLTVGK1867
CACNA1FLFALVRTSLKIKTEG---NLEQANQELRIV>I<KKIW-KRM-KQKLLDEVIPPPDEEEVTVGK1582
CACNA1GEHPTDRQLFDTI---S--LLIQGSLEWELK>L<MDEL-AGPGGQPSAFPSAPSLGGSDP----1974
CACNA1H---LVARKV----------------SVSRM>L<-SLPNDSYM----FRPVVPASAPHPR----1946
CACNA1IVSLIIKDSL----------------EGELT>I<IDNL-SGSI----FHHYSSPAGCKKCHHDK1845
CACNA1SLFALVRTALKIKTEG---NFEQANEELRAI>I<KKIW-KRT-SMKLLDQVIPPIGDDEVTVGK1522
SCN10ALFAFTKNVLGES--G---ELDSLKANMEEK>F<MA---TNL-SKSSYEPIATTLRWKQEDIS-1854
SCN11ALFAFTARVLGGS--D---GLDSMKAMMEEK>F<ME---ANP-LKKLYEPIVTTTKRKEEERG-1736
SCN1ALFAFTKRVLGES--G---EMDALRIQMEER>F<MA---SNP-SKVSYQPITTTLKRKQEEVS-1918
SCN2ALFAFTKRVLGES--G---EMDALRIQMEER>F<MA---SNP-SKVSYEPITTTLKRKQEEVS-1908
SCN3ALFAFTKRVLGES--G---EMDALRIQMEDR>F<MA---SNP-SKVSYEPITTTLKRKQEEVS-1903
SCN4ALFALTKEVLGDS--G---EMDALKQTMEEK>F<MA---ANP-SKVSYEPITTTLKRKHEEVC-1730
SCN5ALFAFTKRVLGES--G---EMDALKIQMEEK>F<MA---ANP-SKISYEPITTTLRRKHEEVS-1904
SCN7ALLAFTKRVMGQD--V---RMEKVVSEIESG>F<LL---ANP-FKITCEPITTTLKRKQEAVS-1628
SCN8ALFAFTKRVLGDS--G---ELDILRQQMEER>F<VA---SNP-SKVSYEPITTTLRRKQEEVS-1898
SCN9ALFAFTKRVLGES--G---EMDSLRSQMEER>F<MS---ANP-SKVSYEPITTTLKRKQEDVS-1881
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1589 for CACNA1C.