Paralogue Annotation for CACNA1C residue 310

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 310
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 310

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	G289S	Long QT syndrome	Medium	4	19716085, 25637381

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	NQEGIAD-------------V----PA--->E<------------------------------	310
CACNA1A	E-E-GTD------------DI-----Q--->G<------------------------------	266
CACNA1B	P-N-STD------------A------E--->P<------------------------------	262
CACNA1D	F-A-DSD-------------I----VA--->E<------------------------------	311
CACNA1E	M-N-NSG------------IL----EG--->F<------------------------------	262
CACNA1F	F-L-GSD-------------M----EA--->E<------------------------------	277
CACNA1G	L-P-ENFSLPLSVD-LE-RYYQT-ENE--->D<ESPFICSQPRENG-------MRSCRSVPTL	288
CACNA1H	L-D-SAFVRNNNLTFLR-PYYQT-EEG--->E<ENPFICSSRRDNG-------MQKCSHIPGR	308
CACNA1I	L-E-ENFTIQGDVA-LP-PYYQP-EED--->D<EMPFICSLSGDNG-------IMGCHEIPPL	286
CACNA1S	F-I-GTD-------------I----VATVE>N<------------------------------	239
SCN10A	K-N-------------------DMAVN--->E<-TTN--------------------------	288
SCN11A	S-R-------------------DCK-N--->I<-SN---------------------------	293
SCN1A	Q-WP-PTNASLEEH-SI-EKNITVNYN--->G<-TL-------------IN---------ETV	309
SCN2A	Q-WP-PDNSSFEIN-ITSFFNNSLDGN--->G<-TT-------------FN---------RTV	311
SCN3A	Q-WP-PSDSAFETN-TTSYFNGTMDSN--->G<-TF-------------VN---------VTM	310
SCN4A	R-WP-PPFN--DTN-TTWYSNDTWYGN--->D<-TWYGNEMWYGNDSWYANDTWNSHASWATN	333
SCN5A	R--------------------NFTALN--->G<-TN-------------GS---------VEA	296
SCN7A	R-WP-QENE-----------------N--->E<-TLH-------------N---------RTG	284
SCN8A	V-WP-------------------INFN--->E<-SY-------------LE---------NGT	297
SCN9A	R-NS-------------------LENN--->E<-TL-------------ES---------IMN	291
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E310A	c.929A>C	Putative Benign			SIFT: Polyphen: