Paralogue Annotation for CACNA1C residue 322

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 322
Reference Amino Acid: H - Histidine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 322

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA342VDravet syndrome C ?Medium3 21248271, 24168886
SCN1AA342SDravet syndromeMedium3 26096185

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--DPSPCALETG>H<GRQ-CQN-GTVCKPGWDGPKHGITNFDNFA350
CACNA1A-----------------E--SPAPCGTEEP>A<-RT-C-PNGTKCQPYWEGPNNGITQFDNIL305
CACNA1B-----------------V--GDFPCGKEAP>A<-RL-C-EGDTECREYWPGPNFGITNFDNIL301
CACNA1D-----------------E--DPAPCAFSGN>G<R-Q-CTANGTECRSGWVGPNGGITNFDNFA351
CACNA1E-----------------D--PPHPCGVQG->-<----C-PAGYEC-KDWIGPNDGITQFDNIL296
CACNA1F-----------------E--DPSPCASSGS>G<R-A-CTLNQTECRGRWPGPNGGITNFDNFF317
CACNA1GGGGGPPCG-LDYEAYNS---------SSNT>T<C-VNWNQYYTNCSAGEHNPFKGAINFDNIG341
CACNA1H--LRMPCT-LGWEAYTQP--QAEGVGAARN>A<C-INWNQYYNVCRSGDSNPHNGAINFDNIG365
CACNA1I--QGRECCLSKDDVYDFG--AGRQDLNASG>L<C-VNWNRYYNVCRTGSANPHKGAINFDNIG344
CACNA1S-----------------E--EPSPCARTGS>G<R-R-CTINGSECRGGWPGPNHGITHFDNFG279
SCN10A--S-SHRK-PDIYINKRGTSDPLLCGNGSD>S<G-H-C-PDGYICLKTSDNPDFNYTSFDSFA343
SCN11A-PE---AY-DHCFEKKENSPEFKMCGIWMG>N<S-A-C-SIQYECKHTKINPDYNYTNFDNFG346
SCN1ADWKSYIQD-SRYHYFLEGFLDALLCGNSSD>A<G-Q-C-PEGYMCVKAGRNPNYGYTSFDTFS369
SCN2ANWDEYIED-KSHFYFLEGQNDALLCGNSSD>A<G-Q-C-PEGYICVKAGRNPNYGYTSFDTFS371
SCN3ANWKDYIGD-DSHFYVLDGQKDPLLCGNGSD>A<G-Q-C-PEGYICVKAGRNPNYGYTSFDTFS370
SCN4ADWDAYISD-EGNFYFLEGSNDALLCGNSSD>A<G-H-C-PEGYECIKTGRNPNYGYTSYDTFS393
SCN5ASLDLYLSD-PENYLLKNGTSDVLLCGNSSD>A<G-T-C-PEGYRCLKAGENPDHGYTSFDSFA359
SCN7A-NPYYIRE-TENFYYLEGERYALLCGNRTD>A<G-Q-C-PEGYVCVKAGINPDQGFTNFDSFG340
SCN8ADWEEYINN-KTNFYTVPGMLEPLLCGNSSD>A<G-Q-C-PEGYQCMKAGRNPNYGYTSFDTFS357
SCN9ASEEDF----RKYFYYLEGSKDALLCGFSTD>S<G-Q-C-PEGYTCVKIGRNPDYGYTSFDTFS348
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 322 for CACNA1C.