Paralogue Annotation for CACNA1C residue 757

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 757
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 757

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AS987IEpileptic encephalopathy, early infantileMedium8 26993267, 27353043

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.



CACNA1CMLVCIYFIILFICGNYILLNVFLAIAVDNL>A<DAESLTSAQKEEEEE-KERKK-LART---A782
CACNA1AMVFSIYFIVLTLFGNYTLLNVFLAIAVDNL>A<NAQELTKDEQEEEEA-ANQKL-ALQKAKEV746
CACNA1BMFSSFYFIVLTLFGNYTLLNVFLAIAVDNL>A<NAQELTKDEEEMEEA-ANQKL-ALQKAKEV742
CACNA1DMIVCIYFIILFICGNYILLNVFLAIAVDNL>A<DAESLNTAQKEEAEE-KERKK-IARK---E801
CACNA1EMWSAIYFIVLTLFGNYTLLNVFLAIAVDNL>A<NAQELTKDEQEEEEA-FNQKH-ALQKAKEV735
CACNA1FMLVCIYFIILFICGNYILLNVFLAIAVDNL>A<SGDA-GTAKDKGGEK-SNEKDLPQEN---E787
CACNA1GSWAALYFIALMTFGNYVLFNLLVAILVEGF>Q<-AEEISKREDASGQL-SCIQL-PVDSQGGD995
CACNA1HSWAALYFVALMTFGNYVLFNLLVAILVEGF>Q<-AEGDANRSDTDEDKTSVHFEEDFHKL---1045
CACNA1IPWASLYFVALMTFGNYVLFNLLVAILVEGF>Q<AEGDAN-RSYSDEDQSSSNIE-EFDKLQE-893
CACNA1SMLVCIYFIILFVCGNYILLNVFLAIAVDNL>A<EAESLTSAQKAKAEE-KKRRK-MSKGLPDK693
SCN10ASICLILFLTVMVLGNLVVLNLFIALLLNSF>S<-ADNLTAP-EDDGEV-NNLQV-ALARIQV-919
SCN11ASLCVIVFILITVIGKLVVLNLFIALLLNSF>S<-NEERNGNLEGEARK-TKVQL-ALDRFRRA842
SCN1AAMCLTVFMMVMVIGNLVVLNLFLALLLSSF>S<-ADNLAAT-DDDNEM-NNLQI-AVDRMHKG1022
SCN2ATMCLTVFMMVMVIGNLVVLNLFLALLLSSF>S<-SDNLAAT-DDDNEM-NNLQI-AVGRMQKG1013
SCN3ATMCLIVFMLVMVIGNLVVLNLFLALLLSSF>S<-SDNLAAT-DDDNEM-NNLQI-AVGRMQKG1014
SCN4AAMCLTVFLMVMVIGNLVVLNLFLALLLSSF>S<-ADSLAAS-DEDGEM-NNLQI-AIGRIKLG832
SCN5ASLCLLVFLLVMVIGNLVVLNLFLALLLSSF>S<-ADNLTAP-DEDREM-NNLQL-ALARIQRG969
SCN7ASWCIPFYLMVILIGNLLVLYLFLA-LVSSF>S<-SCKDVTA-EENNEA-KNLQL-AVARIKKG758
SCN8AAMCLIVFMMVMVIGNLVVLNLFLALLLSSF>S<-ADNLAAT-DDDGEM-NNLQI-SVIRIKKG1007
SCN9AAMCLIVYMMVMVIGNLVVLNLFLALLLSSF>S<-SDNLTAI-EEDPDA-NNLQI-AVTRIKKG987
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 757 for CACNA1C.