Paralogue Annotation for SCN5A residue 87

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 87
Reference Amino Acid: Y - Tyrosine
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 87

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	Y84C	Myoclonic epilepsy of infancy	High	4	17347258

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 SCN5A.

SCN5A	DLQASKKLPDLYGNPPQELIGEPLEDLDPF>Y<STQK-TFI-VLNKGKTIFRFSATNALYVLS	115
SCN1A	DLEAGKNLPFIYGDIPPEMVSEPLEDLDPY>Y<INKK-TFI-VLNKGKAIFRFSATSALYILT	112
SCN2A	DLEAGKSLPFIYGDIPPEMVSVPLEDLDPY>Y<INKK-TFI-VLNKGKAISRFSATPALYILT	113
SCN3A	DLEAGKNLPFIYGDIPPEMVSEPLEDLDPY>Y<INKK-TFI-VMNKGKAIFRFSATSALYILT	112
SCN4A	DLEAGKNLPMIYGDPPPEVIGIPLEDLDPY>Y<SNKK-TFI-VLNKGKAIFRFSATPALYLLS	115
SCN7A	DLEVGKKLPFIYGNLSQGMVSEPLEDVDPY>Y<YKKKNTFI-VLNKNRTIFRFNAASILCTLS	102
SCN8A	DLEAGKSLPFIYGDIPQGLVAVPLEDFDPY>Y<LTQK-TFV-VLNRGKTLFRFSATPALYILS	116
SCN9A	DLEAGKQLPFIYGDIPPGMVSEPLEDLDPY>Y<ADKK-TFI-VLNKGKTIFRFNATPALYMLS	110
SCN10A	DLKACNQLPKFYGELPAELIGEPLEDLDPF>Y<STHR-TFM-VLNKGRTISRFSATRALWLFS	114
SCN11A	DLKASRKLPKLYGDIPRELIGKPLEDLDPF>Y<RNHK-TFM-VLNRKRTIYRFSAKHALFIFG	113
CACNA1A	--------PGA-----------QRMYKQSM>A<QRARTMAL-YNPIPVRQNCLTVNRSLFLFS	82
CACNA1B	Q-------PGQ-----------RVLYKQSI>A<QRARTMAL-YNPIPVKQNCFTVNRSLFVFS	79
CACNA1C	LSWQAAIDAARQAKLMGSAGNATISTVSST>-<QRKRQQYG-KPKKQGSTTATRPPRALLCLT	108
CACNA1D	LSWQAAIDAARQAKAAQTMSTSAPPPVGSL>S<QRKRQQYA-KSKKQGNSSNSRPARALFCLS	110
CACNA1E	--------SGQ-----------AAAYKQTK>A<QRARTMAL-YNPIPVRQNCFTVNRSLFIFG	73
CACNA1F	-P-------AV--------EGESSGASGLG>T<PKRRNQHS-KHKTVAVASAQRSPRALFCLT	76
CACNA1G	---------G-----------PGSA----->-<-EKDPG-SADSEAEGLPYPALAPVVFFYLS	65
CACNA1H	---------S-----------P-AA----->-<-ERGAELG-ADEEQRVPYPALAATVFFCLG	84
CACNA1I	P-------PS-----------SPPG----->-<-LEEPL-D-G-ADPHVPHPDLAPIAFFCLR	63
CACNA1S	----------------------------SS>P<QDEGLRKK-QPKKPVPEILPRPPRALFCLT	35
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y87C	c.260A>G	Inherited Arrhythmia	BrS		SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	BrS	[Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene]. Khirurgiia (Mosk). 2013 (2):49-53. 23503384