Table 3. Potentially damaging missense SNV in P2RY12 in cases with IPFD.

This table lists the missense SNV found in P2RY12 in cases with a demonstrable platelet aggregation defect. For each missense SNV the results of six independent annotation tools: P-SNP (the consensus classifier), MAPP, PhD-SNP, PP-1, PP-2, SIFT and SNAP are indicated as + for ‘damaging’ and − for ‘not damaging’.

Substitution	Variation	Manual annotation	P-SNP	MAPP	PhD-SNP	PP-1	PP-2	SIFT	SNAP
R122H	novel	DRY motif	+	+	+	+	+	+	+
P258T	rs202099742	TM6; adjacent to Y259 that contributes to ligand binding	+	−	−	+	+	+	+
V207A	rs370983746	TM5; adjacent to C208 that has multiple binding contacts with TM3	+	+	−	−	+	+	+