Paralogue Annotation for CACNA1C residue 1661

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1661
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1661

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	A1949S	Long QT syndrome	Medium	1	15840476
SCN5A	A1949P	Brugada syndrome	Medium	1	19406494

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	PS--------QRNALS-L-QAGLRTL-H-D>I<GPE-IRRA-------ISG----DLTAEEE-	1678
CACNA1A	EQDRTPLMFQRMEPPS------PTQ----->-<-EG-GP-G-------QNALPS-TQLDPGGA	2017
CACNA1B	LS----QMGPVSLFHP------LKATLE-Q>T<-QPAVLRGARVFLR-QKS--S-TSLSNGGA	1926
CACNA1D	PA--------KNTTIA-L-QAGLRTL-H-D>I<GPE-IRRA-------ISC----DLQDDEP-	1687
CACNA1E	EQ-KNAPMFQRMEPSS------LPQ----->-<-EI-IA-N-------AKALPY-LQQDPVSG	1928
CACNA1F	AA--------PSTSSA-L-QAGLRSL-Q-D>L<GPE-MRQA-------LTC----DTEEEEE-	1644
CACNA1G	-------------SLA------LTD----->-<-DSLP--------DDMHTLLLSALESN-MQ	2022
CACNA1H	AE-SCASLQIPLAVSS------PAR----->-<-SGEPLHALSPRGTARSPSLSRLLCRQ-EA	2018
CACNA1I	LS-LEDPTACPPGRKD------SKG----->-<-ELDP-----PEPMRVGDLGECFFPLS-ST	1912
CACNA1S	RP--------KKDIVQ-I-QAGLRTI-EEE>A<APE-ICRT-------VSG----DLAAEEE-	1583
SCN10A	VP---------RAEEE---AASLPDEGF-V>A<FTA---------------------------	1899
SCN11A	-Q-----------------------NDL-->-<--E---------------------------	1763
SCN1A	NK---------NKIKG--GANLLIKEDM-I>I<DRI---------------------------	1964
SCN2A	KK---------DKGKE--CDGTPIKEDT-L>I<DKL---------------------------	1954
SCN3A	NK---------EAIKG--RIDLPIKQDM-I>I<DKL---------------------------	1949
SCN4A	RH---------SHDGS--GDDAPEKEGL-L>A<NTM-SKMY---------------------G	1781
SCN5A	RQ---------QAGSGLSEEDAPEREGL-I>A<YVM---------------------------	1952
SCN7A	MI---------DGDR----DVHATKEGA-Y>F<DKA---------------------------	1672
SCN8A	------------------------KKTT-S>N<KLE---------------------------	1926
SCN9A	IK---------DGDRD---DDLLNKKDM-A>F<DNV---------------------------	1926
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See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1661V	c.4981A>G	Putative Benign			SIFT: Polyphen: