Paralogue Annotation for CACNA1C residue 489

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 489
Reference Amino Acid: C - Cysteine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 489

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AI684MDravet syndrome ?Low2 19763161

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----IEGEN->C<G-----------------------------490
CACNA1A-------LLNPEEAED-QLA----DIA-S->V<G-----------------------------450
CACNA1B-------LIHAEEGED-RFA----DLC-A->V<G-----------------------------446
CACNA1D-------SVNTENVSG-EGE----NRG-C->C<GSLWCWWR-------RRGA-AKA-------504
CACNA1E-------AMTRDSSDE-HCV----DIS-S->V<G-----------------------------439
CACNA1F-------RS-THSTSSHASL----P-A-SD>T<GSMTETQG-------DEDE-EEG-------490
CACNA1G-------ADSGACGPD-SCP----YCA-R->A<G-----AG-----EVELADREMP-DSDSEA692
CACNA1H-------AGTLTCELK-SCP----YCT-R->A<L-----ED-P---EGELSGSESG-DSDGRG726
CACNA1I-------------DPA-SCP----CCQ-H->E<D-----GR-RPSGLGS---TDSGQEGSGSG580
CACNA1S-------SLY-EI----------------->-<---------------------AG-------403
SCN10AFD---AGQKKTFLSAE-YLDEPFRAQR-A->M<SVVSIITSV----L-EELE-ESE-------628
SCN11A---KRLSQNLSLDHFD-EHGDPLQRQR-A->L<SAVSILTIT----M-KEQE-KSQ-------540
SCN1ATEMRKRRSSSFHVSMD-FLEDPSQRQR-A->M<SIASILTNT----V-EELE-ESR-------731
SCN2ATEIRKRRSSSYHVSMD-LLEDPTSRQR-A->M<SIASILTNT----M-EELE-ESR-------722
SCN3ATEVRKRRLSSYQISME-MLEDSSGRQR-A->V<SIASILTNT----M-EELE-ESR-------723
SCN4A-----------------E---KGAPRQ-S->S<SGDSGISDA----M-EELE-EAH-------541
SCN5AEPGGPQMLTSQAPCVD-GFEEPGARQR-A->L<SAVSVLTSA----L-EELE-ESR-------680
SCN7AIEMKKRSPISTDTSLD-VLEDATLRHK--->-<---------------EELE-KSK-------468
SCN8AVEIKKKGPGSLLVSMD-QLASYGRKDR-I->N<SIMSVVTNTL---V-EELE-ESQ-------716
SCN9AIH-KKRRCSSYLLSED-MLNDPNLRQR-A->M<SRASILTNT----V-EELE-ESR-------696
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 489 for CACNA1C.