Paralogue Annotation for SCN5A residue 1502

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1502
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker III-IV

Paralogue Variants mapped to SCN5A residue 1502

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	G1515R	Lenox–Gastaut syndrome	Medium	2	25108116

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	FMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPLNKYQGFIFD	1523
SCN1A	FMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPGNKFQGMVFD	1536
SCN2A	FMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPANKFQGMVFD	1526
SCN3A	FMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPANKFQGMVFD	1521
SCN4A	FMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPQNKIQGMVYD	1348
SCN7A	FITVKQRKQY------RRL---KK-L---->M<-YEDS--------QRPVPRPLNKLQGFIFD	1246
SCN8A	FMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPLNKIQGIVFD	1517
SCN9A	FMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPGNKIQGCIFD	1499
SCN10A	FMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPLNKFQGFVFD	1471
SCN11A	FMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPLNKCQGLVFD	1361
CACNA1A	EEYSLEKNER------ACI---DFAI---->-<-SAKP-------LTRHMPQNKQSFQYRMWQ	1561
CACNA1B	SECSLEKNER------ACI---DFAI---->-<-SAKP-------LTRYMPQNRQSFQYKTWT	1467
CACNA1C	KNCELDKNQR------QCV---EYAL---->-<-KARP-------LRRYIPK--NQHQYKVWY	1214
CACNA1D	KNCELDKNQR------QCV---EYAL---->-<-KARP-------LRRYIPK--NPYQYKFWY	1220
CACNA1E	EECSLEKNER------ACI---DFAI---->-<-SAKP-------LTRYMPQNRHTFQYRVWH	1473
CACNA1F	QNCELDKNQR------QCV---EYAL---->-<-KAQP-------LRRYIPK--NPHQYRVWA	1185
CACNA1G	RRREEKRLRRLEKKRRNLML--DDVI---->-<ASGSSASAASEAQCKPYYSDYSRFRLLVHH	1606
CACNA1H	RRREEK----------RLRRLERRRRSTFP>S<PEAQ---------RRPYYADYSPTRRSIHS	1612
CACNA1I	RRREEK----------RLRRLEKKRR---->-<-KAQ---------RLPYYATYCHTRLLIHS	1482
CACNA1S	KNCELDKNQR------QCV---QYAL---->-<-KARP-------LRCYIPK--NPYQYQVWY	1113
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1502S	c.4504G>A	Inherited Arrhythmia	BrS	rs199473267	SIFT: deleterious Polyphen: benign
Reports		Inherited Arrhythmia	BrS	Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol. 2002 40(2):350-6. 12106943
		Inherited Arrhythmia	BrS	Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164