Paralogue Annotation for CACNA1C residue 690

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 690
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 690

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	N935H	Generalized epilepsy with febrile seizures plus	Medium	9	18566737

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	FGGKFNFD-E------------MQTRRSTF>D<NFPQSLLTVFQILTGEDWNSVMYDGIMAYG	720
CACNA1A	FGGQFNFD-E------------G-TPPTNF>D<TFPAAIMTVFQILTGEDWNEVMYDGIKSQG	682
CACNA1B	FGGQFNFQ-D------------E-TPTTNF>D<TFPAAILTVFQILTGEDWNAVMYHGIESQG	678
CACNA1D	FGGKFNFD-E------------TQTKRSTF>D<NFPQALLTVFQILTGEDWNAVMYDGIMAYG	739
CACNA1E	FGGRFNFN-D------------G-TPSANF>D<TFPAAIMTVFQILTGEDWNEVMYNGIRSQG	671
CACNA1F	FGGKFNFD-Q------------THTKRSTF>D<TFPQALLTVFQILTGEDWNVVMYDGIMAYG	725
CACNA1G	FGCKFASER---------DG-DTLPDRKNF>D<SLLWAIVTVFQILTQEDWNKVLYNGMAS-T	936
CACNA1H	FGCKFSLKTD--------TG-DTVPDRKNF>D<SLLWAIVTVFQILTQEDWNVVLYNGMAS-T	987
CACNA1I	FGCKFSLRTD--------TG-DTVPDRKNF>D<SLLWAIVTVFQILTQEDWNVVLYNGMAS-T	834
CACNA1S	FGGRYDFE-D------------TEVRRSNF>D<NFPQALISVFQVLTGEDWTSMMYNGIMAYG	628
SCN10A	LGENYRNN-RKN----I-SAPHEDWPRWHM>H<DFFHSFLIVFRILCGE-WIENMWACMEV--	860
SCN11A	FGRSFNSQ-KSPKLCNPTGPTVSCLRHWHM>G<DFWHSFLVVFRILCGE-WIENMWECMQEAN	781
SCN1A	FGKSYKDC-VCK----I-AS-DCQLPRWHM>N<DFFHSFLIVFRVLCGE-WIETMWDCMEV--	962
SCN2A	FGKSYKEC-VCK----I-SN-DCELPRWHM>H<DFFHSFLIVFRVLCGE-WIETMWDCMEV--	953
SCN3A	FGKSYKEC-VCK----I-ND-DCTLPRWHM>N<DFFHSFLIVFRVLCGE-WIETMWDCMEV--	954
SCN4A	FGKSYKEC-VCK----I-AL-DCNLPRWHM>H<DFFHSFLIVFRILCGE-WIETMWDCMEV--	772
SCN5A	FGKNYSEL-RDS----D-SG---LLPRWHM>M<DFFHAFLIIFRILCGE-WIETMWDCMEV--	909
SCN7A	FGKNYEEF-VCH----I-DK-DCQLPRWHM>H<DFFHSFLNVFRILCGE-WVETLWDCMEV--	699
SCN8A	FGKSYKEC-VCK----I-NQ-DCELPRWHM>H<DFFHSFLIVFRVLCGE-WIETMWDCMEV--	947
SCN9A	FGKSYKEC-VCK----I-ND-DCTLPRWHM>N<DFFHSFLIVFRVLCGE-WIETMWDCMEV--	927
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D690N	c.2068G>A	Putative Benign		rs369638898	SIFT: tolerated Polyphen: benign