Paralogue Annotation for SCN5A residue 1503

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1503
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker III-IV

Paralogue Variants mapped to SCN5A residue 1503

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	S1516X	Myoclonic epilepsy of infancy	Medium	3	11940708, 25525159, 24168886
SCN1A	S1516W	Dravet syndrome	Medium	3	26096185

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	TEEQKKYY------NAM---KK-L----G->S<KKP--------QKPIPRPLNKYQGFIFDIV	1525
SCN1A	TEEQKKYY------NAM---KK-L----G->S<KKP--------QKPIPRPGNKFQGMVFDFV	1538
SCN2A	TEEQKKYY------NAM---KK-L----G->S<KKP--------QKPIPRPANKFQGMVFDFV	1528
SCN3A	TEEQKKYY------NAM---KK-L----G->S<KKP--------QKPIPRPANKFQGMVFDFV	1523
SCN4A	TEEQKKYY------NAM---KK-L----G->S<KKP--------QKPIPRPQNKIQGMVYDLV	1350
SCN7A	TVKQRKQY------RRL---KK-L----M->Y<EDS--------QRPVPRPLNKLQGFIFDVV	1248
SCN8A	TEEQKKYY------NAM---KK-L----G->S<KKP--------QKPIPRPLNKIQGIVFDFV	1519
SCN9A	TEEQKKYY------NAM---KK-L----G->S<KKP--------QKPIPRPGNKIQGCIFDLV	1501
SCN10A	TEEQKKYY------NAM---KK-L----G->S<KKP--------QKPIPRPLNKFQGFVFDIV	1473
SCN11A	TEEQKKYY------NAM---KK-L----G->S<KKP--------QKPIPRPLNKCQGLVFDIV	1363
CACNA1A	YSLEKNER------ACI---DFAI------>S<AKP-------LTRHMPQNKQSFQYRMWQFV	1563
CACNA1B	CSLEKNER------ACI---DFAI------>S<AKP-------LTRYMPQNRQSFQYKTWTFV	1469
CACNA1C	CELDKNQR------QCV---EYAL------>K<ARP-------LRRYIPK--NQHQYKVWYVV	1216
CACNA1D	CELDKNQR------QCV---EYAL------>K<ARP-------LRRYIPK--NPYQYKFWYVV	1222
CACNA1E	CSLEKNER------ACI---DFAI------>S<AKP-------LTRYMPQNRHTFQYRVWHFV	1475
CACNA1F	CELDKNQR------QCV---EYAL------>K<AQP-------LRRYIPK--NPHQYRVWATV	1187
CACNA1G	REEKRLRRLEKKRRNLML--DDVI-----A>S<GSSASAASEAQCKPYYSDYSRFRLLVHHLC	1608
CACNA1H	REEK----------RLRRLERRRRSTFPSP>E<AQ---------RRPYYADYSPTRRSIHSLC	1614
CACNA1I	REEK----------RLRRLEKKRR------>K<AQ---------RLPYYATYCHTRLLIHSMC	1484
CACNA1S	CELDKNQR------QCV---QYAL------>K<ARP-------LRCYIPK--NPYQYQVWYIV	1115
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1503P	c.4507T>C	Inherited Arrhythmia	LQTS	rs199473342	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	[The clinical variability of and approaches to treatment of life-threatening ventricular arrhythmias caused by SCN5A gene mutations]. Vestn Ross Akad Med Nauk. 2007 (5):3-11. 17605181