Paralogue Annotation for CACNA1C residue 488

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 488
Reference Amino Acid: N - Asparagine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 488

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AA662SSudden unexplained deathLow3 24631775

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---------SVNTENVAG-G-D----IEGE>N<-CG---------------------------490
CACNA1A---------LLNPEEAED-QLA----DIA->S<-VG---------------------------450
CACNA1B---------LIHAEEGED-RFA----DLC->A<-VG---------------------------446
CACNA1D---------SVNTENVSG-EGE----NRG->C<-CGSLWCWWR-------RRGA-AKA-----504
CACNA1E---------AMTRDSSDE-HCV----DIS->S<-VG---------------------------439
CACNA1F---------RS-THSTSSHASL----P-A->S<DTGSMTETQG-------DEDE-EEG-----490
CACNA1G---------ADSGACGPD-SCP----YCA->R<-AG-----AG-----EVELADREMP-DSDS690
CACNA1H---------AGTLTCELK-SCP----YCT->R<-AL-----ED-P---EGELSGSESG-DSDG724
CACNA1I---------------DPA-SCP----CCQ->H<-ED-----GR-RPSGLGS---TDSGQEGSG578
CACNA1S---------SLY-EI--------------->-<-----------------------AG-----403
SCN10ASAFD---AGQKKTFLSAE-YLDEPFRAQR->A<-MSVVSIITSV----L-EELE-ESE-----628
SCN11A-----KRLSQNLSLDHFD-EHGDPLQRQR->A<-LSAVSILTIT----M-KEQE-KSQ-----540
SCN1ATETEMRKRRSSSFHVSMD-FLEDPSQRQR->A<-MSIASILTNT----V-EELE-ESR-----731
SCN2ATETEIRKRRSSSYHVSMD-LLEDPTSRQR->A<-MSIASILTNT----M-EELE-ESR-----722
SCN3ATETEVRKRRLSSYQISME-MLEDSSGRQR->A<-VSIASILTNT----M-EELE-ESR-----723
SCN4A-------------------E---KGAPRQ->S<-SSGDSGISDA----M-EELE-EAH-----541
SCN5ASEEPGGPQMLTSQAPCVD-GFEEPGARQR->A<-LSAVSVLTSA----L-EELE-ESR-----680
SCN7AIQIEMKKRSPISTDTSLD-VLEDATLRHK->-<-----------------EELE-KSK-----468
SCN8ATEVEIKKKGPGSLLVSMD-QLASYGRKDR->I<-NSIMSVVTNTL---V-EELE-ESQ-----716
SCN9ANQIH-KKRRCSSYLLSED-MLNDPNLRQR->A<-MSRASILTNT----V-EELE-ESR-----696
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 488 for CACNA1C.