NOTES: 1) The first column designates PDB IDs. Subsequent columsn deisgnate residues, in the format RESID_CHAIN. 2) Disease-associated ClinVar SNVs are defined to be those with a clinical significance of "5", which designates "pathogenic". Surface-critical residues that coincide with disease-associated ClinVar SNVs 1EP9 136_A 135_A 137_A 132_A 341_A 168_A 196_A 263_A 264_A 199_A 164_A 198_A 88_A 197_A 265_A 165_A 80_A 343_A 67_A 90_A 131_A 155_A 39_A 303_A 93_A 267_A 77_A 76_A 225_A 269_A 126_A 268_A 180_A 181_A 142_A 152_A 151_A 41_A 159_A 320_A 326_A 44_A 202_A 311_A 340_A 339_A 345_A 347_A 315_A 316_A 318_A 182_A 63_A 1IIL 347_E 292_E 328_E 2VUK 157_A 1C9Y 102_A 136_A 341_A 343_A 39_A 67_A 202_A 196_A 199_A 164_A 198_A 265_A 197_A 137_A 80_A 135_A 77_A 76_A 131_A 132_A 155_A 98_A 111_A 126_A 165_A 225_A 267_A 142_A 269_A 88_A 268_A 159_A 41_A 152_A 178_A 63_A 181_A 183_A 1HZD 217_E 217_F 217_A 217_D 217_C 187_D 187_F 217_B 2GBV 146_A 146_F 113_F 113_A 2GBU 146_A 146_B 113_B 113_A 2G3X 67_B 2R1V 166_B 163_B 1GKO 45_A 67_A 45_B 62_B 62_A 1I3L 239_B 90_A 3EXE 250_C 1FDH 42_B 42_A 1T09 132_A 3I7G 232_B 1NVV 63_R 2ZQQ 217_D 1NI4 250_A 243_C Interior-critical residues that coincide with disease-associated ClinVar SNVs 1EP9 210_A 102_A 2VUK 141_A 1C9Y 137_A 210_A 102_A 105_A 155_A 268_A 1HZD 187_C 2R1V 149_A 3MZT 96_A 1I3L 302_A 2AA6 862_A 1A6Z 96_B 1DE4 96_B Surface-critical residues that coincide with disease-associated HGMD SNVs 1EP9 136_A 135_A 137_A 132_A 168_A 196_A 263_A 264_A 199_A 164_A 141_A 198_A 87_A 88_A 197_A 265_A 165_A 80_A 79_A 67_A 305_A 90_A 304_A 131_A 129_A 155_A 39_A 303_A 93_A 92_A 94_A 267_A 77_A 76_A 117_A 122_A 225_A 269_A 126_A 125_A 268_A 180_A 181_A 142_A 43_A 148_A 152_A 151_A 41_A 40_A 159_A 320_A 277_A 44_A 202_A 311_A 315_A 316_A 318_A 182_A 63_A 1MMK 240_A 238_A 417_A 241_A 235_A 261_A 231_A 419_A 230_A 170_A 217_A 233_A 239_A 418_A 242_A 297_A 422_A 243_A 270_A 269_A 271_A 183_A 158_A 154_A 245_A 247_A 246_A 248_A 280_A 205_A 206_A 268_A 161_A 414_A 415_A 148_A 171_A 1IIL 347_E 292_E 328_E 336_E 2VUK 155_A 110_A 156_A 1C9Y 102_A 136_A 79_A 39_A 67_A 202_A 196_A 199_A 164_A 198_A 265_A 197_A 137_A 80_A 135_A 77_A 76_A 131_A 132_A 129_A 155_A 98_A 305_A 122_A 126_A 165_A 225_A 267_A 87_A 142_A 269_A 88_A 268_A 159_A 43_A 41_A 152_A 40_A 178_A 63_A 181_A 183_A 1QXE 106_B 134_B 2GBV 146_A 146_F 113_F 113_A 2GBU 146_A 146_B 113_B 113_A 2G3X 38_A 64_B 67_B 38_B 1YVT 134_B 129_B 106_B 32_B 125_B 42_B 2R1V 166_B 163_B 3OIK 94_A 4ANP 348_A 346_A 241_A 301_A 308_A 1GKO 64_B 64_A 38_A 45_A 67_A 45_B 62_B 38_B 62_A 1I3L 169_A 239_B 150_A 90_A 1RQ3 106_B 134_B 32_D 106_D 134_D 129_D 111_A 32_B 3EXE 207_A 257_C 250_C 207_C 257_A 1FDH 80_B 42_B 42_A 1T09 183_A 183_B 4AGN 97_A 3DUT 141_B 139_D 139_B 111_C 3I7G 232_B 1NVV 12_R 63_R 1NI4 257_A 257_C 273_C 250_A 207_C 243_C 1A6Z 184_A 1DE4 53_A 184_A Interior-critical residues that coincide with disease-associated HGMD SNVs 1EP9 210_A 305_A 122_A 102_A 129_A 1MMK 248_A 320_A 378_A 380_A 418_A 124_A 132_A 154_A 155_A 158_A 165_A 203_A 206_A 244_A 245_A 258_A 261_A 271_A 403_A 406_A 415_A 417_A 419_A 1IIL 252_E 281_E 2VUK 97_A 132_A 141_A 1C9Y 137_A 50_A 210_A 305_A 79_A 117_A 122_A 102_A 105_A 129_A 155_A 268_A 1QXE 111_C 2R1V 149_A 1I3L 302_A 150_B 313_B 1RQ3 134_D 3EXE 207_A 207_C 4AGN 97_A 219_A 251_A 3DUT 111_A 2AA6 862_A 1DE4 184_D Stenson et al (2014), The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133:1-9. Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, Maglott DR. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014 Jan 1;42(1):D980-5.