Table 2.

Summary of Computational Variant Prediction and Functional Analysis

SIDS-linked Variants	KvSNP	Polyphen2	SNPs & Go	SIFT	Score	In controls	Functional analysis
E90K	Neutral	Benign	Disease	Damaging	2	Y	normal
R181Q	Neutral	Damaging	Disease	Tolerated	2	Y	normal44
A190T	Neutral	Benign	Disease	Tolerated	1	Y	ND
G294V	Disease	Benign	Disease	Tolerated	2	N	normal
R791W	Disease	Damaging	Disease	Damaging	4	Y	altered gating22
P967L	Neutral	Benign	Neutral	Tolerated	0	Y	normal25
R1005W	Disease	Damaging	Disease	Damaging	4	N	altered gating
R1047L	Disease	Benign	Disease	Tolerated	2	Y	normal25
Q1068R	Benign	Damaging	Disease	Damaging	3	Y	altered gating25

The list of KCNH2 variants identified in the SIDS cohort along with the predicted effect of the variant on the function of the channel using KvSNP, Polyphen2, SNPs & Go or SIFT. The score is the number of computational predictions that predict the variant as damaging or disease. The table also summarizes whether or not the individual variants have been identified in control subjects (Y = yes, N = no) and the results of functional testing (normal = similar to WT, ND = not determined).