Paralogue Annotation for CACNA1C residue 300

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 300
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 300

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	R282H	Brugada syndrome	Medium	7	11901046, 21840964, 27153395
SCN5A	R282C	Brugada syndrome	Medium	7	20129283

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	HIALLVLFVIIIYAIIGLELFMGKMHKTCY>N<QEGIAD-------------V----PA---E	310
CACNA1A	QIGLLLFFAILIFAIIGLEFYMGKFHTTCF>E<-E-GTD------------DI-----Q---G	266
CACNA1B	QIGLLLFFAILMFAIIGLEFYMGKFHKACF>P<-N-STD------------A------E---P	262
CACNA1D	HIALLVLFVIIIYAIIGLELFIGKMHKTCF>F<-A-DSD-------------I----VA---E	311
CACNA1E	QIGLLLFFAILMFAIIGLEFYSGKLHRACF>M<-N-NSG------------IL----EG---F	262
CACNA1F	HIALLVLFVIIIYAIIGLELFLGRMHKTCY>F<-L-GSD-------------M----EA---E	277
CACNA1G	NVLLLCFFVFFIFGIVGVQLWAGLLRNRCF>L<-P-ENFSLPLSVD-LE-RYYQT-ENE---D	265
CACNA1H	NVLLLCFFVFFIFGIVGVQLWAGLLRNRCF>L<-D-SAFVRNNNLTFLR-PYYQT-EEG---E	285
CACNA1I	NVLLLCFFVFFIFGIIGVQLWAGLLRNRCF>L<-E-ENFTIQGDVA-LP-PYYQP-EED---D	263
CACNA1S	HIALLVLFMVIIYAIIGLELFKGKMHKTCY>F<-I-GTD-------------I----VATVEN	239
SCN10A	DVTILTIFCLSVFALVGLQLFKGNLKNKCV>K<-N-------------------DMAVN---E	285
SCN11A	NVIILTFFCLSIFALVGQQLFMGSLNLKCI>S<-R-------------------DCK-N---I	291
SCN1A	DVMILTVFCLSVFALIGLQLFMGNLRNKCI>Q<-WP-PTNASLEEH-SI-EKNITVNYN---G	302
SCN2A	DVMILTVFCLSVFALIGLQLFMGNLRNKCL>Q<-WP-PDNSSFEIN-ITSFFNNSLDGN---G	304
SCN3A	DVMILTVFCLSVFALIGLQLFMGNLRNKCL>Q<-WP-PSDSAFETN-TTSYFNGTMDSN---G	303
SCN4A	DVMILTVFCLSVFALVGLQLFMGNLRQKCV>R<-WP-PPFN--DTN-TTWYSNDTWYGN---D	304
SCN5A	DVMVLTVFCLSVFALIGLQLFMGNLRHKCV>R<--------------------NFTALN---G	289
SCN7A	GVIILTLFFLSIFSLIGMGLFMGNLKHKCF>R<-WP-QENE-----------------N---E	277
SCN8A	DVMILTVFCLSVFALIGLQLFMGNLRNKCV>V<-WP-------------------INFN---E	290
SCN9A	DVMILTVFCLSVFALIGLQLFMGNLKHKCF>R<-NS-------------------LENN---E	284
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N300D	c.898A>G	Inherited Arrhythmia		rs200289321	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	BrS	Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations. Basic Res Cardiol. 2014 109(6):446. doi: 10.1007/s00395-014-0446-5. 25341504