Paralogue Annotation for CACNA1C residue 324

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 324
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 324

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AR279CEpisodic ataxia 2Medium2 27066515

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---------------D--DPSPCALETGHG>R<Q-CQN-GTVCKPGWDGPKHGITNFDNFAFA352
CACNA1A---------------E--SPAPCGTEEPA->R<T-C-PNGTKCQPYWEGPNNGITQFDNILFA307
CACNA1B---------------V--GDFPCGKEAPA->R<L-C-EGDTECREYWPGPNFGITNFDNILFA303
CACNA1D---------------E--DPAPCAFSGNGR>-<Q-CTANGTECRSGWVGPNGGITNFDNFAFA353
CACNA1E---------------D--PPHPCGVQG--->-<--C-PAGYEC-KDWIGPNDGITQFDNILFA298
CACNA1F---------------E--DPSPCASSGSGR>-<A-CTLNQTECRGRWPGPNGGITNFDNFFFA319
CACNA1GGGPPCG-LDYEAYNS---------SSNTTC>-<VNWNQYYTNCSAGEHNPFKGAINFDNIGYA343
CACNA1HLRMPCT-LGWEAYTQP--QAEGVGAARNAC>-<INWNQYYNVCRSGDSNPHNGAINFDNIGYA367
CACNA1IQGRECCLSKDDVYDFG--AGRQDLNASGLC>-<VNWNRYYNVCRTGSANPHKGAINFDNIGYA346
CACNA1S---------------E--EPSPCARTGSGR>-<R-CTINGSECRGGWPGPNHGITHFDNFGFS281
SCN10AS-SHRK-PDIYINKRGTSDPLLCGNGSDSG>-<H-C-PDGYICLKTSDNPDFNYTSFDSFAWA345
SCN11AE---AY-DHCFEKKENSPEFKMCGIWMGNS>-<A-C-SIQYECKHTKINPDYNYTNFDNFGWS348
SCN1AKSYIQD-SRYHYFLEGFLDALLCGNSSDAG>-<Q-C-PEGYMCVKAGRNPNYGYTSFDTFSWA371
SCN2ADEYIED-KSHFYFLEGQNDALLCGNSSDAG>-<Q-C-PEGYICVKAGRNPNYGYTSFDTFSWA373
SCN3AKDYIGD-DSHFYVLDGQKDPLLCGNGSDAG>-<Q-C-PEGYICVKAGRNPNYGYTSFDTFSWA372
SCN4ADAYISD-EGNFYFLEGSNDALLCGNSSDAG>-<H-C-PEGYECIKTGRNPNYGYTSYDTFSWA395
SCN5ADLYLSD-PENYLLKNGTSDVLLCGNSSDAG>-<T-C-PEGYRCLKAGENPDHGYTSFDSFAWA361
SCN7APYYIRE-TENFYYLEGERYALLCGNRTDAG>-<Q-C-PEGYVCVKAGINPDQGFTNFDSFGWA342
SCN8AEEYINN-KTNFYTVPGMLEPLLCGNSSDAG>-<Q-C-PEGYQCMKAGRNPNYGYTSFDTFSWA359
SCN9AEDF----RKYFYYLEGSKDALLCGFSTDSG>-<Q-C-PEGYTCVKIGRNPDYGYTSFDTFSWA350
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 324 for CACNA1C.