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javascript is not enabled in your browser. this form will not function properly without javascript enabled. please enable javascript and reload the form. home advanced search variants variant map statistics new variant world map structures aa alignments resources coagbase data references uniprot fa9 support submit contact us help site map f9 variants haemophilia b is caused by variants (mutations) in the f9 gene which codes for coagulation factor ix. there are currently 1094 unique variants in the f9 gene compiled within this database corresponding to 3713 individual cases. citing us if you find this website useful, please reference our publication: rallapalli, p.m., kemball-cook, g., tuddenham, e.g., gomez, k., & perkins, s.j. 2013. an interactive mutation database for human coagulation factor ix provides novel insights into the phenotypes and genetics of haemophilia b. j.thromb.haemost. available from: pm:23617593 what can you do in this database? you can search for all the mutations reported in the f9 gene prior to the database release date. you can look in the database for all the sequence, structural and statistical information for the mutations. you can also submit new mutations and contribute to the genetic services provided through this database. simple nucleotide search nucleotide ---select--- all -55 -53 -52 -50 -49 -48 -35 -34 -24 -23 -22 -21 -18 -17 -5 8 19 27 30 50 52 53 55 56 59 60 61 62 63 64 66 68 71 76 77 78 82 83 84 85 86 87 88 89 95 103 107 109 110 112 115 119 127 128 129 133 135 137 138 142 143 145 146 147 148 151 155 157 158 159 160 161 162 163 164 165 169 172 173 174 178 179 182 183 184 185 187 188 190 191 197 199 203 204 205 206 212 214 215 217 218 219 223 224 226 227 228 229 230 233 235 236 237 240 247 248 250 251 252 253 255 259 260 262 263 265 268 271 272 275 276 277 278 279 280 281 282 283 284 286 287 288 289 290 291 292 301 302 304 305 308 311 312 313 314 316 317 320 322 323 324 328 329 330 334 335 339 340 344 349 350 351 352 353 354 355 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21 22 23 24 26 28 29 30 32 35 36 37 38 39 40 43 44 45 46 48 49 50 51 52 53 54 55 57 58 60 61 62 63 64 66 67 68 69 71 72 73 74 75 76 77 78 79 81 83 84 85 87 88 89 90 91 92 93 94 95 96 97 98 101 102 103 104 105 106 107 108 110 112 113 114 115 117 118 119 122 123 124 125 128 129 130 131 132 134 136 137 138 139 140 141 142 143 145 147 150 151 152 153 154 155 156 157 160 161 162 163 164 166 167 168 169 170 173 174 177 178 179 180 181 182 183 184 186 188 190 191 192 193 194 201 202 208 210 216 217 219 220 223 224 226 227 228 229 230 231 233 236 237 238 239 240 241 242 243 244 245 246 248 250 251 252 253 254 256 257 258 259 261 262 263 264 265 266 267 268 270 271 273 275 277 279 280 282 284 286 288 289 290 291 292 293 294 296 298 302 303 305 308 310 311 312 313 314 315 316 317 318 319 320 321 322 323 324 325 328 329 330 331 333 334 335 336 337 339 340 341 342 343 344 345 346 347 349 351 352 353 354 355 356 357 358 359 360 362 363 366 367 369 370 371 372 374 375 376 377 378 379 380 381 382 383 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first amino-acid of the mature fviii protein (in hgvs numbering, this is codon +47). hgvs numbering is recommended, however legacy numbering is extensively used in fix publications, particularly before the year 2000. classification of variant phenotype (severity): mutations causing haemophilia b are classified by factor ix clotting activity level into the following groups: severe (≤1%), moderate (1-5%) and mild >5%. where a laboratory value does not correlate with the severity given in a particular report we have attempted to clarify the discrepancy with the original authors. if the discrepancy remains, the clinical severity of the phenotype as reported by the authors has been used. for variants causing mild haemophilia b we have attempted to indicate whether the deleterious effect of the mutation is predominantly quantitative (reduced levels of a normally functioning protein) or qualitative (dysfunctional protein which may or may not also be associated with a reduction in pr

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Domain Name: FACTORIX.ORG
Registry Domain ID: D165199789-LROR
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Updated Date: 2017-02-26T18:36:17Z
Creation Date: 2012-04-04T16:52:33Z
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Registry Registrant ID: C146737343-LROR
Registrant Name: Stephen Perkins
Registrant Organization: UCL
Registrant Street: Department of Structural and Molecular Biology
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SERVERS

  SERVER org.whois-servers.net

  ARGS factorix.org

  PORT 43

  TYPE domain

DOMAIN

  NAME factorix.org

  HANDLE D165199789-LROR

  CREATED 2012-04-04

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  NS.123-REG.CO.UK 212.67.202.2

  NS2.123-REG.CO.UK 62.138.132.21

OWNER

  HANDLE C146737343-LROR

  NAME Stephen Perkins

  ORGANIZATION UCL

ADDRESS

STREET
Department of Structural and Molecular Biology

  CITY London

  STATE London

  PCODE WC1E 6BT

  COUNTRY GB

  PHONE +44.2076797048

  EMAIL [email protected]

ADMIN

  HANDLE C146737345-LROR

  NAME Stephen Perkins

  ORGANIZATION UCL

ADDRESS

STREET
Department of Structural and Molecular Biology

  CITY London

  STATE London

  PCODE WC1E 6BT

  COUNTRY GB

  PHONE +44.2076797048

  EMAIL [email protected]

TECH

  HANDLE C146737345-LROR

  NAME Stephen Perkins

  ORGANIZATION UCL

ADDRESS

STREET
Department of Structural and Molecular Biology

  CITY London

  STATE London

  PCODE WC1E 6BT

  COUNTRY GB

  PHONE +44.2076797048

  EMAIL [email protected]

  REGISTERED yes

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