Paralogue Annotation for CACNA1C residue 1347

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1347
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 4

Paralogue Variants mapped to CACNA1C residue 1347

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	R1680C	Episodic ataxia 2	High	9	20129625
SCN5A	R1644C	Brugada syndrome	High	9	16344400, 19716085
SCN5A	R1644H	Long QT syndrome	High	9	8541846, 8620612, 8917568
SCN1A	R1657C	Generalized epilepsy with febrile seizures plus	High	9	14672992
SCN1A	R1657H	Cryptogenic focal epilepsy	High	9	17347258, 21719429

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	NSRISITFFRLFRV---MRLVKLLSRGEGI>R<TLLWTFIKSFQALPYVALLIVMLFFIYAVI	1377
CACNA1A	--FINLSFLRLFRA---ARLIKLLRQGYTI>R<ILLWTFVQSFKALPYVCLLIAMLFFIYAII	1709
CACNA1B	NNFINLSFLRLFRA---ARLIKLLRQGYTI>R<ILLWTFVQSFKALPYVCLLIAMLFFIYAII	1617
CACNA1D	SNRISITFFRLFRV---MRLVKLLSRGEGI>R<TLLWTFIKSFQALPYVALLIAMLFFIYAVI	1387
CACNA1E	TSGFNMSFLKLFRA---ARLIKLLRQGYTI>R<ILLWTFVQSFKALPYVCLLIAMLFFIYAII	1624
CACNA1F	SSRISITFFRLFRV---MRLVKLLSKGEGI>R<TLLWTFIKSFQALPYVALLIAMIFFIYAVI	1344
CACNA1G	SLPINPTIIRIMRVLRIARVLKLLKMAVGM>R<ALLDTVMQALPQVGNLGLLFMLLFFIFAAL	1760
CACNA1H	ALPINPTIIRIMRVLRIARVLKLLKMATGM>R<ALLDTVVQALPQVGNLGLLFMLLFFIYAAL	1766
CACNA1I	ALPINPTIIRIMRVLRIARVLKLLKMATGM>R<ALLDTVVQALPQVGNLGLLFMLLFFIYAAL	1636
CACNA1S	SARISSAFFRLFRV---MRLIKLLSRAEGV>R<TLLWTFIKSFQALPYVALLIVMLFFIYAVI	1284
SCN10A	QSYFSPTLFRVIRLARIGRILRLIRAAKGI>R<TLLFALMMSLPALFNIGLLLFLVMFIYSIF	1624
SCN11A	HIPFPPTLFRIVRLARIGRILRLVRAARGI>R<TLLFALMMSLPSLFNIGLLLFLIMFIYAIL	1514
SCN1A	KYFVSPTLFRVIRLARIGRILRLIKGAKGI>R<TLLFALMMSLPALFNIGLLLFLVMFIYAIF	1687
SCN2A	KYFVSPTLFRVIRLARIGRILRLIKGAKGI>R<TLLFALMMSLPALFNIGLLLFLVMFIYAIF	1677
SCN3A	KYFVSPTLFRVIRLARIGRILRLIKGAKGI>R<TLLFALMMSLPALFNIGLLLFLVMFIYAIF	1672
SCN4A	KYFVSPTLFRVIRLARIGRVLRLIRGAKGI>R<TLLFALMMSLPALFNIGLLLFLVMFIYSIF	1499
SCN5A	KYFFSPTLFRVIRLARIGRILRLIRGAKGI>R<TLLFALMMSLPALFNIGLLLFLVMFIYSIF	1674
SCN7A	SYLVPPSLVQLILLSRIIHMLRLGKGPKVF>H<NLMLPLMLSLPALLNIILLIFLVMFIYAVF	1397
SCN8A	KYFVSPTLFRVIRLARIGRILRLIKGAKGI>R<TLLFALMMSLPALFNIGLLLFLVMFIFSIF	1668
SCN9A	TYFVSPTLFRVIRLARIGRILRLVKGAKGI>R<TLLFALMMSLPALFNIGLLLFLVMFIYAIF	1650
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1347Q	c.4040G>A	Putative Benign			SIFT: Polyphen: