Paralogue Annotation for CACNA1C residue 334

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 334
Reference Amino Acid: P - Proline
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 334

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN3AK354QEpilepsy, cryptogenic pediatric partialMedium8 18242854, 20420834, 24157691

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--DPSPCALETGHGRQ-CQN-GTVCK>P<GWDGPKHGITNFDNFAFAMLTVFQCITMEG364
CACNA1A---E--SPAPCGTEEPA-RT-C-PNGTKCQ>P<YWEGPNNGITQFDNILFAVLTVFQCITMEG319
CACNA1B---V--GDFPCGKEAPA-RL-C-EGDTECR>E<YWPGPNFGITNFDNILFAILTVFQCITMEG315
CACNA1D---E--DPAPCAFSGNGR-Q-CTANGTECR>S<GWVGPNGGITNFDNFAFAMLTVFQCITMEG365
CACNA1E---D--PPHPCGVQG------C-PAGYEC->K<DWIGPNDGITQFDNILFAVLTVFQCITMEG310
CACNA1F---E--DPSPCASSGSGR-A-CTLNQTECR>G<RWPGPNGGITNFDNFFFAMLTVFQCVTMEG331
CACNA1GYNS---------SSNTTC-VNWNQYYTNCS>A<GEHNPFKGAINFDNIGYAWIAIFQVITLEG355
CACNA1HYTQP--QAEGVGAARNAC-INWNQYYNVCR>S<GDSNPHNGAINFDNIGYAWIAIFQVITLEG379
CACNA1IYDFG--AGRQDLNASGLC-VNWNRYYNVCR>T<GSANPHKGAINFDNIGYAWIVIFQVITLEG358
CACNA1S---E--EPSPCARTGSGR-R-CTINGSECR>G<GWPGPNHGITHFDNFGFSMLTVYQCITMEG293
SCN10ANKRGTSDPLLCGNGSDSG-H-C-PDGYICL>K<TSDNPDFNYTSFDSFAWAFLSLFRLMTQDS357
SCN11AKKENSPEFKMCGIWMGNS-A-C-SIQYECK>H<TKINPDYNYTNFDNFGWSFLAMFRLMTQDS360
SCN1AFLEGFLDALLCGNSSDAG-Q-C-PEGYMCV>K<AGRNPNYGYTSFDTFSWAFLSLFRLMTQDF383
SCN2AFLEGQNDALLCGNSSDAG-Q-C-PEGYICV>K<AGRNPNYGYTSFDTFSWAFLSLFRLMTQDF385
SCN3AVLDGQKDPLLCGNGSDAG-Q-C-PEGYICV>K<AGRNPNYGYTSFDTFSWAFLSLFRLMTQDY384
SCN4AFLEGSNDALLCGNSSDAG-H-C-PEGYECI>K<TGRNPNYGYTSYDTFSWAFLALFRLMTQDY407
SCN5ALKNGTSDVLLCGNSSDAG-T-C-PEGYRCL>K<AGENPDHGYTSFDSFAWAFLALFRLMTQDC373
SCN7AYLEGERYALLCGNRTDAG-Q-C-PEGYVCV>K<AGINPDQGFTNFDSFGWALFALFRLMAQDY354
SCN8ATVPGMLEPLLCGNSSDAG-Q-C-PEGYQCM>K<AGRNPNYGYTSFDTFSWAFLALFRLMTQDY371
SCN9AYLEGSKDALLCGFSTDSG-Q-C-PEGYTCV>K<IGRNPDYGYTSFDTFSWAFLALFRLMTQDY362
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 334 for CACNA1C.