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

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN3A	K354Q	Epilepsy, cryptogenic pediatric partial	Medium	8	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<GWDGPKHGITNFDNFAFAMLTVFQCITMEG	364
CACNA1A	---E--SPAPCGTEEPA-RT-C-PNGTKCQ>P<YWEGPNNGITQFDNILFAVLTVFQCITMEG	319
CACNA1B	---V--GDFPCGKEAPA-RL-C-EGDTECR>E<YWPGPNFGITNFDNILFAILTVFQCITMEG	315
CACNA1D	---E--DPAPCAFSGNGR-Q-CTANGTECR>S<GWVGPNGGITNFDNFAFAMLTVFQCITMEG	365
CACNA1E	---D--PPHPCGVQG------C-PAGYEC->K<DWIGPNDGITQFDNILFAVLTVFQCITMEG	310
CACNA1F	---E--DPSPCASSGSGR-A-CTLNQTECR>G<RWPGPNGGITNFDNFFFAMLTVFQCVTMEG	331
CACNA1G	YNS---------SSNTTC-VNWNQYYTNCS>A<GEHNPFKGAINFDNIGYAWIAIFQVITLEG	355
CACNA1H	YTQP--QAEGVGAARNAC-INWNQYYNVCR>S<GDSNPHNGAINFDNIGYAWIAIFQVITLEG	379
CACNA1I	YDFG--AGRQDLNASGLC-VNWNRYYNVCR>T<GSANPHKGAINFDNIGYAWIVIFQVITLEG	358
CACNA1S	---E--EPSPCARTGSGR-R-CTINGSECR>G<GWPGPNHGITHFDNFGFSMLTVYQCITMEG	293
SCN10A	NKRGTSDPLLCGNGSDSG-H-C-PDGYICL>K<TSDNPDFNYTSFDSFAWAFLSLFRLMTQDS	357
SCN11A	KKENSPEFKMCGIWMGNS-A-C-SIQYECK>H<TKINPDYNYTNFDNFGWSFLAMFRLMTQDS	360
SCN1A	FLEGFLDALLCGNSSDAG-Q-C-PEGYMCV>K<AGRNPNYGYTSFDTFSWAFLSLFRLMTQDF	383
SCN2A	FLEGQNDALLCGNSSDAG-Q-C-PEGYICV>K<AGRNPNYGYTSFDTFSWAFLSLFRLMTQDF	385
SCN3A	VLDGQKDPLLCGNGSDAG-Q-C-PEGYICV>K<AGRNPNYGYTSFDTFSWAFLSLFRLMTQDY	384
SCN4A	FLEGSNDALLCGNSSDAG-H-C-PEGYECI>K<TGRNPNYGYTSYDTFSWAFLALFRLMTQDY	407
SCN5A	LKNGTSDVLLCGNSSDAG-T-C-PEGYRCL>K<AGENPDHGYTSFDSFAWAFLALFRLMTQDC	373
SCN7A	YLEGERYALLCGNRTDAG-Q-C-PEGYVCV>K<AGINPDQGFTNFDSFGWALFALFRLMAQDY	354
SCN8A	TVPGMLEPLLCGNSSDAG-Q-C-PEGYQCM>K<AGRNPNYGYTSFDTFSWAFLALFRLMTQDY	371
SCN9A	YLEGSKDALLCGFSTDSG-Q-C-PEGYTCV>K<IGRNPDYGYTSFDTFSWAFLALFRLMTQDY	362
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

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