Paralogue Annotation for CACNA1C residue 849

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 849
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to CACNA1C residue 849

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1H	E1170K	Idiopathic epilepsy, generalised	Medium	2	17696120
SCN2A	M1128T	Acute encephalitis with refractory, repetitive par	Medium	2	22591750

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	NEDK----SPYPNP---ET-----TGEEDE>E<EP----------------------------	851
CACNA1A	------------------------------>-<-------RHGAPATYEGDARREDKERRHRR	1029
CACNA1B	------------------------------>-<-------RARHKAQPAHEAVEKETT-----	998
CACNA1D	DEDK----DPYPPC---DVPVGEEEEEEEE>D<EP----------------------------	857
CACNA1E	-------------EADTPL-----VLPHPE>L<EVGKHVVLTEQEPEGSSEQALLGNVQLD--	1041
CACNA1F	EE-G----ARREGA---DMEEEEEEEEEEE>E<EE----------------------------	822
CACNA1G	RLARALRPDD---P---PL-----DGDDAD>D<EG----------------------------	1228
CACNA1H	PSDFFLRIDS---H---RE-----DAAELD>D<DS----------------------------	1246
CACNA1I	AKDVFTKMGD-------RG-----DRGEDE>E<EI----------------------------	1122
CACNA1S	NEVK----DPYPSA---DF-----PGDDEE>D<EP----------------------------	750
SCN10A	-----------------E-----TWKDESV>P<QV-------------PA---E---------	1076
SCN11A	-----------------------NAQRITQ>P<EP-------------EQQAYEL--------	949
SCN1A	-----------------------DFSSESD>L<EE-------------SK---E---------	1143
SCN2A	-----------------------EFSSESD>M<EE-------------SK---E---------	1133
SCN3A	-----------------------EFSSESE>L<EE-------------SK---E---------	1131
SCN4A	-----------------------ETDTFSE>P<ED-------------SKKPPQ---------	955
SCN5A	-----------------------EENSLGT>E<EE-------------SSKQQESQPVS----	1083
SCN7A	-----------------------EIQSKSG>D<GG-------------SK---E---------	864
SCN8A	-----------------------DVSSESD>P<EG-------------SK---D---------	1124
SCN9A	-----------------------ELSSDSD>S<EY-------------SK---V---------	1106
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E849K	c.2545G>A	Putative Benign		rs370446470	SIFT: tolerated Polyphen: benign