Paralogue Annotation for CACNA1C residue 342

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 342
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 342

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG351DBrugada syndromeHigh9 20129283
SCN5AG351VBrugada syndromeHigh9 12051963
CACNA1FG309DHigh myopiaHigh9 26747767
CACNA1AG297REpisodic ataxia, global developmental delay, and mHigh9 26814174

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.



CACNA1CSPCALETGHGRQ-CQN-GTVCKPGWDGPKH>G<ITNFDNFAFAMLTVFQCITMEGWTDVLYWV372
CACNA1AAPCGTEEPA-RT-C-PNGTKCQPYWEGPNN>G<ITQFDNILFAVLTVFQCITMEGWTDLLYNS327
CACNA1BFPCGKEAPA-RL-C-EGDTECREYWPGPNF>G<ITNFDNILFAILTVFQCITMEGWTDILYNT323
CACNA1DAPCAFSGNGR-Q-CTANGTECRSGWVGPNG>G<ITNFDNFAFAMLTVFQCITMEGWTDVLYWV373
CACNA1EHPCGVQG------C-PAGYEC-KDWIGPND>G<ITQFDNILFAVLTVFQCITMEGWTTVLYNT318
CACNA1FSPCASSGSGR-A-CTLNQTECRGRWPGPNG>G<ITNFDNFFFAMLTVFQCVTMEGWTDVLYWM339
CACNA1G----SSNTTC-VNWNQYYTNCSAGEHNPFK>G<AINFDNIGYAWIAIFQVITLEGWVDIMYFV363
CACNA1HEGVGAARNAC-INWNQYYNVCRSGDSNPHN>G<AINFDNIGYAWIAIFQVITLEGWVDIMYYV387
CACNA1IRQDLNASGLC-VNWNRYYNVCRTGSANPHK>G<AINFDNIGYAWIVIFQVITLEGWVEIMYYV366
CACNA1SSPCARTGSGR-R-CTINGSECRGGWPGPNH>G<ITHFDNFGFSMLTVYQCITMEGWTDVLYWV301
SCN10ALLCGNGSDSG-H-C-PDGYICLKTSDNPDF>N<YTSFDSFAWAFLSLFRLMTQDSWERLYQQT365
SCN11AKMCGIWMGNS-A-C-SIQYECKHTKINPDY>N<YTNFDNFGWSFLAMFRLMTQDSWEKLYQQT368
SCN1ALLCGNSSDAG-Q-C-PEGYMCVKAGRNPNY>G<YTSFDTFSWAFLSLFRLMTQDFWENLYQLT391
SCN2ALLCGNSSDAG-Q-C-PEGYICVKAGRNPNY>G<YTSFDTFSWAFLSLFRLMTQDFWENLYQLT393
SCN3ALLCGNGSDAG-Q-C-PEGYICVKAGRNPNY>G<YTSFDTFSWAFLSLFRLMTQDYWENLYQLT392
SCN4ALLCGNSSDAG-H-C-PEGYECIKTGRNPNY>G<YTSYDTFSWAFLALFRLMTQDYWENLFQLT415
SCN5ALLCGNSSDAG-T-C-PEGYRCLKAGENPDH>G<YTSFDSFAWAFLALFRLMTQDCWERLYQQT381
SCN7ALLCGNRTDAG-Q-C-PEGYVCVKAGINPDQ>G<FTNFDSFGWALFALFRLMAQDYPEVLYHQI362
SCN8ALLCGNSSDAG-Q-C-PEGYQCMKAGRNPNY>G<YTSFDTFSWAFLALFRLMTQDYWENLYQLT379
SCN9ALLCGFSTDSG-Q-C-PEGYTCVKIGRNPDY>G<YTSFDTFSWAFLALFRLMTQDYWENLYQQT370
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 342 for CACNA1C.