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. 2015 Jan 8;113(4):826–837. doi: 10.1160/TH14-08-0679

Table 2:

Potentially damaging missense variants in platelet GPCR genes in the 1,000 Genomes and ESP6500 databases. The table lists the subgroup missense SNV classified as potentially deleterious by both manual and computational annotation. 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’. / indicates the tool did not return a prediction for the SNV.

GPCR Variation Substitution Region Manual annotation P-SNP MAPP PhD-SNP PP-1 PP-2 SIFT SNAP
PAR1 rs144447562 Y266C EL2 Tethered ligand binding region + / + + + - +
PAR1 rs372280945 L354F TM7 Consensus ligand binding pocket + / + - + + -
P2Y12 rs372954515 T283I TM7 TM6-TM7 conserved interaction + + + + + + +
P2Y12 rs367926037 M108L TM3 TM3-TM6 conserved interaction; ligand binding pocket + + + - + + +
P2Y12 rs202099742 P258T EL3 Identified in subject with IPFD + - - + + + +
IP1 rs147448416 R77C TM2 Reduced surface expression (reduced Bmax) + / + + + + +
IP1 rs4987262 R212C IL3 Reduced surface expression (reduced Bmax) + / + + + + +
IP1 rs201340109 R215C IL3 Reduced surface expression (reduced Bmax) + / + + + + +
IP1 rs370909150 H237R TM6 Site of G protein interaction within helices + / + + + + +
TPα rs34377097 R60L ICL1 TM2-TM3 conserved interaction + + + - + + +
TPα rs201421330 M126T TM3 TM3-TM2 conserved interaction + + + - + + +
TPα rs372994525 S218G TM5 Site of G protein interaction within helices + + - - + + +
TPα rs61731124 T286M TM7 Consensus ligand binding pocket + - - + + + +
TPα rs374635591 P305L TM7 TM1-TM7 conserved interaction + + + + + + +
TPα rs370418735 R326W CT Serine phosphorylation site + - - + + + -
LPAR5 rs149664830 M103K TM3 TM3-TM4 conserved interaction + + - + - + +
LPAR5 rs187536858 P294L TM7 TM1-TM7 conserved interaction + + + + + + +
LPAR5 rs374800227 Y298H TM7 TM7-TM2 conserved interaction + + - + + + +
A2A rs142560733 R293C CT Minus 5 from Thr phoshorylation site + + + + + + +
CXCR4 rs368016542 D84H TM2 TM1-TM2 conserved interaction + + - + + + +
CXCR4 rs367718547 D193Y EL2 Mediates dimerization + - + + + + -
PAR4 rs374965245 G13E NT Signal peptide + - - + + + +
PAR4 rs201697829 R47H NT Site of cleavage of tethered ligand + / - + + + -
PAR4 rs2227346 F296V TM6 TM3-TM6 conserved interaction; ligand binding pocket + + - + + + +
PAR4 rs111890288 S329C TM7 Consensus ligand binding pocket + - + - + + -
α2A rs149350078 I234M TM5 Site of G protein interaction within helices + + + + + + +
α2A rs370313798 R383G TM6 Site of G protein interaction within helices + + + + + + +
α2A rs375454021 V390M TM6 Site of G protein interaction within helices + + - + + + -
CCR4 rs200003145 A240V TM6 Site of G protein interaction within helices + - + + + + -
DP1 rs145604058 T69M TM2 TM1-TM2 conserved interaction + + - - + + -
DP1 rs370262391 A127T TM3 TM3-TM5 conserved interaction + + + - + + +
V1A rs180760072 F133C TM3 TM3-TM4 conserved interaction + - + - + + -
V1A rs369710823 M145T TM3 TM3-TM2 conserved interaction + - + - - - -
V1A rs377107751 V153L TM3 Site of G protein interaction within helices + + + - - + -
PAF rs139524224 R229Q TM6 Site of G protein interaction within helices +
FPR1 rs369354920 D122H TM3 E/DRY motif + + - + + + +
FPR1 rs149931707 R123H TM3 Site of G protein interaction within helices + + - + + + +
FPR1 rs368075541 R238H TM6 Site of G protein interaction within helices + - - - + + -
succinate rs371440145 N41K TM1 TM1-TM2 conserved interaction + + + + + + +
succinate rs374436394 I240N TM6 TM3-TM6 conserved interaction + + - + + + +
succinate rs142256005 R252Q TM6 Agonist dependent activation + - + + + + -
succinate rs142852744 R291Q TM7 Agonist dependent activation; TM6-TM7 interaction + - + + + + +
5-HT2A rs375024989 N38K NT N-linked glycosylation site + - - + + + +