Paralogue Annotation for CACNA1C residue 2127

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2127
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 2127

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	P2005A	Cardiomyopathy, dilated ?	Low	2	19412328, 23299917

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	EDA----------GCV-----RARGRPSEE>E<LQDSRVYVSSL	2138
CACNA1A	----------------------------RS>P<SEGREHMAHRQ	2261
CACNA1B	HCTLG-LS--------------SGGR--AR>H<SYHHPDQDHWC	2340
CACNA1D	YSD----------E-E-----PDPGR-DEE>D<LADEMICITTL	2181
CACNA1E	YRRRR-RG-----GPG-----PGMMCGAVN>N<LLSDTEEDDKC	2313
CACNA1F	YSD----------E-E-----SILSRFDEE>D<LGDEMACVHAL	1977
CACNA1G	------------------------------>-<----------P	2377
CACNA1H	PPEKRRGLYLTVPQ-CPLEKPGSPSA--TP>A<-PG-GGADDPV	2353
CACNA1I	--------------------PQPLPG--EL>E<-PGDAASKRKR	2223
CACNA1S	---------------G-----SSLGSLDQH>Q<GSQETLIPPRL	1873
SCN10A	------------------------------>-<-TSMELIAPGP	1956
SCN11A	------------------------------>-<----------D	1791
SCN1A	------------------------------>-<-KG-------K	2009
SCN2A	------------------------------>-<-KGKDIRESKK	2005
SCN3A	------------------------------>-<-KGKEVRENQK	2000
SCN4A	------------------------------>-<-VRPGVKESLV	1836
SCN5A	----------------------------DF>P<PSPDRDRESIV	2016
SCN7A	------------------------------>-<------IQSQI	1682
SCN8A	------------------------------>-<-RQKEVRESKC	1980
SCN9A	------------------------------>-<-KGKDSKESKK	1977
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2127D	c.6381G>C	Putative Benign			SIFT: Polyphen: