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. Author manuscript; available in PMC: 2014 Jun 1.
Published in final edited form as: J Neurogenet. 2013 Mar 25;27(0):1–4. doi: 10.3109/01677063.2013.772176

Table 3.

Frequency of each Polyphen score among variants listed in the EVS for each gene.

Polyphen Score
Gene benign possibly-damaging probably-damaging unknown
KCNQ2 15 4 5 123
KCNQ3 23 8 17 122
SCN2A 27 5 14 167
STXBP1 7 2 6 115
SCN1A 30 21 28 151
SCN1B 10 4 7 42
GABRG2 5 1 2 68
SLC2A1 11 3 7 82
GABRA1 1 0 3 35
EFHC1 19 13 26 63
CHRNA4 20 13 23 106
CHRNB2 7 3 12 46
CHRNA2 14 8 20 63
LGI1 13 2 4 50
KCNMA1 15 7 8 190
SLC2A1 11 3 7 82
CACNA1A 41 15 21 285
KCNA1 14 2 1 30
ATP1A2 16 5 7 181
Gene Product
KCNQ2 Kv7.2 (K+ channel)
KCNQ3 Kv7.3 (K+ channel)
SCN2A Nav1.2 (Na+ channel)
STXBP1 Syntaxin binding protein 1
SCN1A Nav1.1 (Na+ channel)
SCN1B β1 subunit (Na+ channel)
GABRG2 γ2 subunit (GABAA receptor)
SLC2A1 GLUT1 (glucose transporter type 1)
GABRA1 α1 subunit (GABAA receptor)
EFHC1 EF hand motif protein
CHRNA4 α4subunit (nACh receptor)
CHRNB2 β2 subunit (nACh receptor)
CHRNA2 α2 subunit (nACh receptor)
LGI1 Leucine-rich repeat protein
KCNMA1 KCa1.1 (K+ channel)
SLC2A1 GLUT1 (glucose transporter type 1)
CACNA1A Cav2.1 (Ca2+ channel)
KCNA1 Kv1.1 (K+ channel)
ATP1A2 Sodium-potassium ATPase