Paralogue Annotation for CACNA1C residue 1586

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1586
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1586

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN4A	E1702K	Paramyotonia congenita	Medium	4	15534250
SCN8A	E1870D	Epilepsy	Medium	4	26252990

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	NATLFALVRTALRIKTEG---NLEQANEEL>R<AIIKKIW-KRT-SMKLLDQVVPPAGDDEVT	1614
CACNA1A	NSTLMALIRTALDIKIAKGGADKQQMDAEL>R<KEMMAIW-PNL-SQKTLDLLVTPHKSTDLT	1952
CACNA1B	TSTLMALIRTALEIKLAPAGTKQHQCDAEL>R<KEISVVW-ANL-PQKTLDLLVPPHKPDEMT	1851
CACNA1D	NATLFALVRTALKIKTEG---NLEQANEEL>R<AVIKKIW-KKT-SMKLLDQVVPPAGDDEVT	1622
CACNA1E	TSTLMALIRTALDIKIAKGGADRQQLDSEL>Q<KETLAIW-PHL-SQKMLDLLVPMPKASDLT	1864
CACNA1F	NATLFALVRTSLKIKTEG---NLEQANQEL>R<IVIKKIW-KRM-KQKLLDEVIPPPDEEEVT	1579
CACNA1G	FSLEHPTDRQLFDTI---S--LLIQGSLEW>E<LKLMDEL-AGPGGQPSAFPSAPSLGGSDP-	1974
CACNA1H	------LVARKV----------------SV>S<RML-SLPNDSYM----FRPVVPASAPHPR-	1946
CACNA1I	LDSVSLIIKDSL----------------EG>E<LTIIDNL-SGSI----FHHYSSPAGCKKCH	1842
CACNA1S	NATLFALVRTALKIKTEG---NFEQANEEL>R<AIIKKIW-KRT-SMKLLDQVIPPIGDDEVT	1519
SCN10A	LDILFAFTKNVLGES--G---ELDSLKANM>E<EKFMA---TNL-SKSSYEPIATTLRWKQED	1852
SCN11A	MDILFAFTARVLGGS--D---GLDSMKAMM>E<EKFME---ANP-LKKLYEPIVTTTKRKEEE	1734
SCN1A	LDILFAFTKRVLGES--G---EMDALRIQM>E<ERFMA---SNP-SKVSYQPITTTLKRKQEE	1916
SCN2A	LDILFAFTKRVLGES--G---EMDALRIQM>E<ERFMA---SNP-SKVSYEPITTTLKRKQEE	1906
SCN3A	LDILFAFTKRVLGES--G---EMDALRIQM>E<DRFMA---SNP-SKVSYEPITTTLKRKQEE	1901
SCN4A	LDILFALTKEVLGDS--G---EMDALKQTM>E<EKFMA---ANP-SKVSYEPITTTLKRKHEE	1728
SCN5A	MDILFAFTKRVLGES--G---EMDALKIQM>E<EKFMA---ANP-SKISYEPITTTLRRKHEE	1902
SCN7A	LDILLAFTKRVMGQD--V---RMEKVVSEI>E<SGFLL---ANP-FKITCEPITTTLKRKQEA	1626
SCN8A	LDILFAFTKRVLGDS--G---ELDILRQQM>E<ERFVA---SNP-SKVSYEPITTTLRRKQEE	1896
SCN9A	LDILFAFTKRVLGES--G---EMDSLRSQM>E<ERFMS---ANP-SKVSYEPITTTLKRKQED	1879
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1586Q	c.4757G>A	Putative Benign		rs375656252	SIFT: deleterious Polyphen: probably damaging