Paralogue Annotation for CACNA1C residue 454

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 454
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to CACNA1C residue 454

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	R458C	Sudden infant death syndrome	Low	3	25757662, 25757662

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	TQA-ED-----------------IDPENED>E<G-----------------------------	455
CACNA1A	SKA-EE-----------------VILAEDE>T<D-----------------------------	410
CACNA1B	FKA-EE-----------------VMLAEED>R<N-----------------------------	406
CACNA1D	TQA-ED-----------------IDPENEE>E<G-----------------------------	456
CACNA1E	DKA-EE-----------------VMLAEEN>K<N-----------------------------	401
CACNA1F	TQA-EE-----------------LDMEDPS>A<D------------------------DNLG-	426
CACNA1G	LRKAAR-------------RLAQVSRA--A>G<VR-----------------------VGLLS	466
CACNA1H	FRKVKR-------------RSLRLYARW-Q>S<RW-----------------------RK-KV	490
CACNA1I	LRKAKR-------------RALGLYQAL-Q>S<RR-----------------------QA-L-	467
CACNA1S	TQG-EV-----------------MDVEDFR>E<G-----------------------------	384
SCN10A	AALGIDTTS--------------------->L<HSHNGSPLTSKNASERRHRIKPRV----S-	467
SCN11A	VAMGIDRSS--------------------->L<TSLETSYFTPKKRKLFGNKKRKS----FF-	470
SCN1A	QQAATATAS----EHSREPSAAGRL----S>D<SSSEASKLSSKSAKERRNRRKKRKQKEQS-	510
SCN2A	QAAAAAASA-----ESRDFSGAGGIGVF-S>E<SSSVASKLSSKSEKELKNRRKKKKQKEQS-	514
SCN3A	QAVAAASAA------SRDFSGIGGLGEL-L>E<SSSEASKLSSKSAKEWRNRRKKRRQREHL-	512
SCN4A	EKAKAAQAL--------------------->-<----------------------------E-	492
SCN5A	TIRGVDTVS--------------------->R<SSLEMSPLAPVNSHERRSKRRKR----MS-	483
SCN7A	EAK--------------------------->-<------------------------------	432
SCN8A	QAAAMATSAGTVSEDAIEEEGEEGG-GS-P>R<SSSEISKLSSKSAKERRNRRKKRKQKELS-	504
SCN9A	EAIAAAAAE----YTSIRRSRIMGL----S>E<SSSETSKLSSKSAKERRNRRKKKNQKKLS-	489
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E454K	c.1360G>A	Putative Benign			SIFT: Polyphen: