Paralogue Annotation for CACNA1C residue 466

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 466
Reference Amino Acid: M - Methionine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to CACNA1C residue 466

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN9A	G559S	Dravet syndrome	Low	2	23895530

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	--------------EEKPR------N--MS>M<---P-----T-----SET------------	471
CACNA1A	-----------PFDG-ALR------R--TT>I<---K-K---------SKT------------	431
CACNA1B	-----------PLDA-VLK------R--AA>T<---K-K---------SRN------------	427
CACNA1D	--------------E-GKR------N--TS>M<---P-----T-----SET------------	471
CACNA1E	-----------L--E-VLR------R--AT>I<---K-R---------SRT------------	420
CACNA1F	--------------E-G-RAGHRPQL--AE>L<---T-NRRRGRLRWFSHS------------	457
CACNA1G	GNGTLRAPRASPEIQ-DRD------ANGSR>R<LMLP-P---------PS-TPALSGAPPGGA	550
CACNA1H	SHGSPRRPGPEPGAC-DTR------LVR-->-<--AG-A---------PPSPPSPGRGPPD-A	569
CACNA1I	LHGP-------------------------->-<----------------A--------SPGND	518
CACNA1S	-------------------------S--LD>E<---G-----G-----SDT------------	395
SCN10A	FLGLASGKRRASHG--SVF------H--FR>S<---PGR-DIS-----LPE-------GVTDD	523
SCN11A	------------------------------>-<------------------------------
SCN1A	IRGSLFSPRRNSRT--SLF------S--FR>G<---RAK-DVG-----SEN-------DFADD	593
SCN2A	IRGSLFSPRRNSRA--SLF------S--FR>G<---RAK-DIG-----SEN-------DFADD	596
SCN3A	IRGSLFSPRRNSKT--SIF------S--FR>G<---RAK-DVG-----SEN-------DFADD	596
SCN4A	------------------------------>-<------------------------------
SCN5A	GLSRTSMKPRSSRG--SIF------T--FR>R<-----R-DLG-----SEA-------DFADD	546
SCN7A	------------------------------>-<------------------------------
SCN8A	IPGSPFLSRHNSKS--SIF------S--FR>G<PG-RFR-DPG-----SEN-------EFADD	586
SCN9A	IRGSLFSARRSSRT--SLF------S--FK>G<---RGR-DIG-----SET-------EFADD	573
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M466T	c.1397T>C	Putative Benign			SIFT: Polyphen: