Paralogue Annotation for CACNA1C residue 330

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 330
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 330

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	Y349C	Dravet syndrome	Medium	7	24168886

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-G>T<VCKPGWDGPKHGITNFDNFAFAMLTVFQCI	360
CACNA1A	-------E--SPAPCGTEEPA-RT-C-PNG>T<KCQPYWEGPNNGITQFDNILFAVLTVFQCI	315
CACNA1B	-------V--GDFPCGKEAPA-RL-C-EGD>T<ECREYWPGPNFGITNFDNILFAILTVFQCI	311
CACNA1D	-------E--DPAPCAFSGNGR-Q-CTANG>T<ECRSGWVGPNGGITNFDNFAFAMLTVFQCI	361
CACNA1E	-------D--PPHPCGVQG------C-PAG>Y<EC-KDWIGPNDGITQFDNILFAVLTVFQCI	306
CACNA1F	-------E--DPSPCASSGSGR-A-CTLNQ>T<ECRGRWPGPNGGITNFDNFFFAMLTVFQCV	327
CACNA1G	DYEAYNS---------SSNTTC-VNWNQYY>T<NCSAGEHNPFKGAINFDNIGYAWIAIFQVI	351
CACNA1H	GWEAYTQP--QAEGVGAARNAC-INWNQYY>N<VCRSGDSNPHNGAINFDNIGYAWIAIFQVI	375
CACNA1I	KDDVYDFG--AGRQDLNASGLC-VNWNRYY>N<VCRTGSANPHKGAINFDNIGYAWIVIFQVI	354
CACNA1S	-------E--EPSPCARTGSGR-R-CTING>S<ECRGGWPGPNHGITHFDNFGFSMLTVYQCI	289
SCN10A	DIYINKRGTSDPLLCGNGSDSG-H-C-PDG>Y<ICLKTSDNPDFNYTSFDSFAWAFLSLFRLM	353
SCN11A	HCFEKKENSPEFKMCGIWMGNS-A-C-SIQ>Y<ECKHTKINPDYNYTNFDNFGWSFLAMFRLM	356
SCN1A	RYHYFLEGFLDALLCGNSSDAG-Q-C-PEG>Y<MCVKAGRNPNYGYTSFDTFSWAFLSLFRLM	379
SCN2A	SHFYFLEGQNDALLCGNSSDAG-Q-C-PEG>Y<ICVKAGRNPNYGYTSFDTFSWAFLSLFRLM	381
SCN3A	SHFYVLDGQKDPLLCGNGSDAG-Q-C-PEG>Y<ICVKAGRNPNYGYTSFDTFSWAFLSLFRLM	380
SCN4A	GNFYFLEGSNDALLCGNSSDAG-H-C-PEG>Y<ECIKTGRNPNYGYTSYDTFSWAFLALFRLM	403
SCN5A	ENYLLKNGTSDVLLCGNSSDAG-T-C-PEG>Y<RCLKAGENPDHGYTSFDSFAWAFLALFRLM	369
SCN7A	ENFYYLEGERYALLCGNRTDAG-Q-C-PEG>Y<VCVKAGINPDQGFTNFDSFGWALFALFRLM	350
SCN8A	TNFYTVPGMLEPLLCGNSSDAG-Q-C-PEG>Y<QCMKAGRNPNYGYTSFDTFSWAFLALFRLM	367
SCN9A	KYFYYLEGSKDALLCGFSTDSG-Q-C-PEG>Y<TCVKIGRNPDYGYTSFDTFSWAFLALFRLM	358
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T330M	c.989C>T	Putative Benign		rs377345545	SIFT: tolerated Polyphen: possibly damaging