Paralogue Annotation for CACNA1C residue 320

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 320
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 320

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS340FDravet syndromeMedium4 18930999

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--DPSPCALE>T<GHGRQ-CQN-GTVCKPGWDGPKHGITNFDN348
CACNA1A-------------------E--SPAPCGTE>E<PA-RT-C-PNGTKCQPYWEGPNNGITQFDN303
CACNA1B-------------------V--GDFPCGKE>A<PA-RL-C-EGDTECREYWPGPNFGITNFDN299
CACNA1D-------------------E--DPAPCAFS>G<NGR-Q-CTANGTECRSGWVGPNGGITNFDN349
CACNA1E-------------------D--PPHPCGVQ>G<------C-PAGYEC-KDWIGPNDGITQFDN294
CACNA1F-------------------E--DPSPCASS>G<SGR-A-CTLNQTECRGRWPGPNGGITNFDN315
CACNA1G--GGGGPPCG-LDYEAYNS---------SS>N<TTC-VNWNQYYTNCSAGEHNPFKGAINFDN339
CACNA1H----LRMPCT-LGWEAYTQP--QAEGVGAA>R<NAC-INWNQYYNVCRSGDSNPHNGAINFDN363
CACNA1I----QGRECCLSKDDVYDFG--AGRQDLNA>S<GLC-VNWNRYYNVCRTGSANPHKGAINFDN342
CACNA1S-------------------E--EPSPCART>G<SGR-R-CTINGSECRGGWPGPNHGITHFDN277
SCN10A----S-SHRK-PDIYINKRGTSDPLLCGNG>S<DSG-H-C-PDGYICLKTSDNPDFNYTSFDS341
SCN11A---PE---AY-DHCFEKKENSPEFKMCGIW>M<GNS-A-C-SIQYECKHTKINPDYNYTNFDN344
SCN1A--DWKSYIQD-SRYHYFLEGFLDALLCGNS>S<DAG-Q-C-PEGYMCVKAGRNPNYGYTSFDT367
SCN2A--NWDEYIED-KSHFYFLEGQNDALLCGNS>S<DAG-Q-C-PEGYICVKAGRNPNYGYTSFDT369
SCN3A--NWKDYIGD-DSHFYVLDGQKDPLLCGNG>S<DAG-Q-C-PEGYICVKAGRNPNYGYTSFDT368
SCN4A--DWDAYISD-EGNFYFLEGSNDALLCGNS>S<DAG-H-C-PEGYECIKTGRNPNYGYTSYDT391
SCN5AWESLDLYLSD-PENYLLKNGTSDVLLCGNS>S<DAG-T-C-PEGYRCLKAGENPDHGYTSFDS357
SCN7A---NPYYIRE-TENFYYLEGERYALLCGNR>T<DAG-Q-C-PEGYVCVKAGINPDQGFTNFDS338
SCN8A--DWEEYINN-KTNFYTVPGMLEPLLCGNS>S<DAG-Q-C-PEGYQCMKAGRNPNYGYTSFDT355
SCN9A--SEEDF----RKYFYYLEGSKDALLCGFS>T<DSG-Q-C-PEGYTCVKIGRNPDYGYTSFDT346
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T320Mc.959C>T Putative BenignSIFT: deleterious
Polyphen: possibly damaging