Paralogue Annotation for CACNA1C residue 389

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 389
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 389

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	I397T	Long QT syndrome	High	9	19716085
SCN5A	I397V	Sudden unexpected death in epilepsy	High	9	26704558
SCN5A	I397F	Brugada syndrome	High	9	25904541

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	CITMEGWTDVLYWVNDAVGRDWPWIYFVTL>I<IIGSFFVLNLVLGVLSGEFSKEREKAKARG	419
CACNA1A	CITMEGWTDLLYNSNDASGNTWNWLYFIPL>I<IIGSFFMLNLVLGVLSGEFAKERERVENRR	374
CACNA1B	CITMEGWTDILYNTNDAAGNTWNWLYFIPL>I<IIGSFFMLNLVLGVLSGEFAKERERVENRR	370
CACNA1D	CITMEGWTDVLYWVNDAIGWEWPWVYFVSL>I<ILGSFFVLNLVLGVLSGEFSKEREKAKARG	420
CACNA1E	CITMEGWTTVLYNTNDALGATWNWLYFIPL>I<IIGSFFVLNLVLGVLSGEFAKERERVENRR	365
CACNA1F	CVTMEGWTDVLYWMQDAMGYELPWVYFVSL>V<IFGSFFVLNLVLGVLSGEFSKEREKAKARG	386
CACNA1G	VITLEGWVDIMYFVMDAHSF-YNFIYFILL>I<IVGSFFMINLCLVVIATQFSETKQRESQLM	409
CACNA1H	VITLEGWVDIMYYVMDAHSF-YNFIYFILL>I<IVGSFFMINLCLVVIATQFSETKQRESQLM	433
CACNA1I	VITLEGWVEIMYYVMDAHSF-YNFIYFILL>I<IVGSFFMINLCLVVIATQFSETKQREHRLM	412
CACNA1S	CITMEGWTDVLYWVNDAIGNEWPWIYFVTL>I<LLGSFFILNLVLGVLSGEFTKEREKAKSRG	348
SCN10A	LMTQDSWERLYQQTLRTSGKIY-MIFFVLV>I<FLGSFYLVNLILAVVTMAYEEQNQATTDEI	411
SCN11A	LMTQDSWEKLYQQTLRTTGLYS-VFFFIVV>I<FLGSFYLINLTLAVVTMAYEEQNKNVAAEI	414
SCN1A	LMTQDFWENLYQLTLRAAGKTY-MIFFVLV>I<FLGSFYLINLILAVVAMAYEEQNQATLEEA	437
SCN2A	LMTQDFWENLYQLTLRAAGKTY-MIFFVLV>I<FLGSFYLINLILAVVAMAYEEQNQATLEEA	439
SCN3A	LMTQDYWENLYQLTLRAAGKTY-MIFFVLV>I<FLGSFYLVNLILAVVAMAYEEQNQATLEEA	438
SCN4A	LMTQDYWENLFQLTLRAAGKTY-MIFFVVI>I<FLGSFYLINLILAVVAMAYAEQNEATLAED	461
SCN5A	LMTQDCWERLYQQTLRSAGKIY-MIFFMLV>I<FLGSFYLVNLILAVVAMAYEEQNQATIAET	427
SCN7A	LMAQDYPEVLYHQILYASGKVY-MIFFVVV>S<FLFSFYMASLFLGILAMAYEEEKQRVGEIS	408
SCN8A	LMTQDYWENLYQLTLRAAGKTY-MIFFVLV>I<FVGSFYLVNLILAVVAMAYEEQNQATLEEA	425
SCN9A	LMTQDYWENLYQQTLRAAGKTY-MIFFVVV>I<FLGSFYLINLILAVVAMAYEEQNQANIEEA	416
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I389V	c.1165A>G	Putative Benign		rs1051355	SIFT: tolerated Polyphen: benign