Table 2.

Characteristics of pathogenic sequence variants found in 15 victims of sudden unexplained death aged 1–35 years in Sweden 2009–2011

Gene	Exon	Nucleotide change	Amino acid change	Region	Domain	Polyphen-2a	SIFT	MutationTasterb	Align-GVGDc
KCNQ1	4	c.658C>A	p. Gly220Lys	S3-S4	Ion transport	Possibly damaging	Tolerated	Disease causing	C0
	5	c.719A>G	p. His240Arg	S4	Ion transport	Benign	Deleterious	Disease causing	C25
	8	c.1109C>T	p. Ala370Val	C-term	–	Probably damaging	Deleterious	Disease causing	C65
KCNH2	8	c.2003C>T	p. Ser668Leu	S6		Probably damaging	Deleterious	Disease causing	C65
RYR2	14	c.1202A>G	p. Asp401Gly	N-term	MIR motif	Possibly damaging	Deleterious	Disease causing	C65
	90	c.12502T>A	p. Ser4168Thr	Cytosol	–	Possibly damaging	Deleterious	Disease causing	C55

SIFT sorting intolerant from tolerant

^aPolyphen-2, polymorphism phenotyping v2, predicts possible impact of an amino acid substitution on the structure and function of the protein

^bMutationTaster calculates probability for the alteration to be either disease causing or a harmless polymorphism

^cAlign-GVGD Align Grantham variation and Grantham distance, ordered from most likely (C65) to interfere with function to least likely (C0)