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start [Retinoblastoma Wiki]
 

Why this page?

Missense/in-frame alterations often pose problems for biologic interpretation because it is not always clear if a given alteration is pathogenic or not. Our goal is to gather all observations of missense/in-frame changes (with is a special focus on the N-term of the pRb). All observations (tumors, patients, families) and all analytical findings (RNA studies) are valuable.

All this information might help to discriminate between pathogenic and non-pathogenic alterations. For a starting point for discussion on the criteria used for discrimination go to this page

Also see: the Mutation database (http://rb1-lovd.d-lohmann.de/)

Summary of promoter/exon1 region mutations

Summary of N-terminal missense/in-frame mutations (and a few silent mts)

click on green parts for further information on specific entries
/ - Splice Mutation
Del - Deletion
Dup - Duplication



|exon01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
001 002 003 004 005 006 007 008 009 010 011 012 013 014 015 016 017 018 019 020
ATG CCG CCC AAA ACC CCC CGA AAA ACG GCC GCC ACC GCC GCC GCT GCC GCC GCG GAA CCC
Met pro pro lys thr pro arg lys thr ala ala thr ala ala ala ala ala ala glu pro
val . . . . . . . . . . . . . . . . . . Dup . . . . ala . . Del-Del-Del . . leu
ile . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
021 022 023 024 025 026 027 028 029 030 031 032 033 034 035 036 037 038 039 040
CCG GCA CCG CCG CCG CCG CCC CCT CCT GAG GAG GAC CCA GAG CAG GAC AGC GGC CCG GAG
pro ala pro pro pro pro pro pro pro glu glu asp pro glu gln asp ser gly pro glu
. . glu Del-Del . . . . . . . . Del . . . . . . . . . . . . . . . . . . . . . .
. . . . leu . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . . . . . . . . |exon02. . . . . . . . . . . . . . . . . . . . . . . . . .
041 042 043 044 045 04|6 047 048 049 050 051 052 053 054 055 056 057 058 059 060
GAC CTG CCT CTC GTC AG|G CTT GAG TTT GAA GAA ACA GAA GAA CCT GAT TTT ACT GCA TTA
asp leu pro leu val ar|g leu glu phe glu glu thr glu glu pro asp phe thr ala leu
. . . . . . . . . . ./|. . . . . . . . . . . . . . . gly . . . . . . . . . . . .
. . . . . . . . . . ./|. . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
061 062 063 064 065 066 067 068 069 070 071 072 073 074 075 076 077 078 079 080
TGT CAG AAA TTA AAG ATA CCA GAT CAT GTC AGA GAG AGA GCT TGG TTA ACT TGG GAG AAA
cys gln lys leu lys ile pro asp his val arg glu arg ala trp leu thr trp glu lys
. . . . . . . . . . . . . . . . . . . . . . gln . . . . . . . . . . . . . . glu
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . . . . . . . . . . . . .|exon03. . . . . . . . . . . . . .. . . . . . .
081 082 083 084 085 086 087 088|089 090 091 092 093 094 095 096 097 098 099 100
GTT TCA TCT GTG GAT GGA GTA TTG|GGA GGT TAT ATT CAA AAG AAA AAG GAA CTG TGG GGA
val ser ser val asp gly val leu|gly gly tyr ile gln lys lys lys glu leu trp gly
. . . . . . . . . . . . . . . .|. . . . . . . . . . . . . . . . . . . . . . . .
. . . . . . . . . . . . . . . .|. . . . . . . . . . . . . . . . . . . . . . . .


. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
081 082 083 084 085 086 087 088 089 090 091 092 093 094 095 096 097 098 099 100
gtt tca tct gtg gat gga gta ttg GGA GGT TAT ATT CAA AAG AAA AAG GAA CTG TGG GGA
val ser ser val asp gly val leu gly gly tyr ile gln lys lys lys glu leu trp gly
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120
ATC TGT ATC TTT ATT GCA GCA GTT GAC CTA GAT GAG ATG TCG TTC ACT TTT ACT GAG CTA
ile cys ile phe ile ala ala val asp leu asp glu met ser phe thr phe thr glu leu
. . . . . . . . . . . . . . . . . . . . . . . . . . leu . . . . . . . . . . . .
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . . . . . . . . . . | exon04. . . . . . . . . . . . . .. . . . . . . . . .
121 122 123 124 125 126 12|7 128 129 130 131 132 133 134 135 136 137 138 139 140
CAG AAA AAC ATA GAA ATC AG|T GTC CAT AAA TTC TTT AAC TTA CTA AAA GAA ATT GAT ACC
gln lys asn ile glu ile se|r val his lys phe phe asn leu leu lys glu ile asp thr
. . . . asp . . . . ser as|n . . tyr . . . . . . his . . . . . . asp ser . . . .
. . . . . . . . . . . . . |. . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160
AGT ACC AAA GTT GAT AAT GCT ATG TCA AGA CTG TTG AAG AAG TAT GAT GTA TTG TTT GCA
ser thr lys val asp asn ala met ser arg leu leu lys lys tyr asp val leu phe ala
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Dup . . . . ser . .
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . . . . . . . . . . |exon05. . . . . . . . . . . . . .. . . . . . . . . .|exon06
161 162 163 164 165 166 16|7 168 169 170 171 172 173 174 175 176 177 178 179 18|0
CTC TTC AGC AAA TTG GAA AG|G ACA TGT GAA CTT ATA TAT TTG ACA CAA CCC AGC AGT TC|G
leu phe ser lys leu glu ar|g thr cys glu leu ile tyr leu thr gln pro ser ser se|r
. . . . . . . . . . . . . |. pro . . . . . . . . . . . . . . . . . . . . . . . |.
. . . . . . . . . . . . . |. . . . . . . . . . . . . . . . . . . . . . . . . . |.


. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200
ATA TCT ACT GAA ATA AAT TCT GCA TTG GTG CTA AAA GTT TCT TGG ATC ACA TTT TTA TTA
ile ser thr glu ile asn ser ala leu val leu lys val ser trp ile thr phe leu leu
thr . . . . . . thr . . thr . . . . . . leu . . . . . . . . thr . . . . . . . .
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . .|exon07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
201 202 2|03 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220
GCT AAA G|GG GAA GTA TTA CAA ATG GAA GAT GAT CTG GTG ATT TCA TTT CAG TTA ATG CTA
ala lys g|ly glu val leu gln met glu asp asp leu val ile ser phe gln leu met leu
. . . . .| . glu . . . . . . val . . . . . . . . . . . . . . . . . . val thr ///
. . . . .| . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .|exon08
221 222 223 224 225 226 227 228 229 230 231 232 233 234 235 236 237 238 239 2|40
TGT GTC CTT GAC TAT TTT ATT AAA CTC TCA CCT CCC ATG TTG CTC AAA GAA CCA TAT A|AA
cys val leu asp tyr phe ile lys leu ser pro pro met leu leu lys glu pro tyr l|ys
. . . . . . . . . . . . . . . . . . pro . . ser. . . . . . . . . . . . . . . . .
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .| .


. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
241 242 243 244 245 246 247 248 249 250 251 252 253 254 255 256 257 258 259 260
ACA GCT GTT ATA CCC ATT AAT GGT TCA CCT CGA ACA CCC AGG CGA GGT CAG AAC AGG AGT
thr ala val ile pro ile asn gly ser pro arg thr pro arg arg gly gln asn arg ser
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
261 262 263 264 265 266 267 268 269 270 271 272 273 274 275 276 277 278 279 280
GCA CGG ATA GCA AAA CAA CTA GAA AAT GAT ACA AGA ATT ATT GAA GTT CTC TGT AAA GAA
ala arg ile ala lys gln leu glu asn asp thr arg ile ile glu val leu cys lys glu
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . .. . . . . . . . . |exon09 . . . . . . . . . . . . . . . . . . . . . . .
281 282 283 284 285 286 287| 288 289 290 291 292 293 294 295 296 297 298 299 300
CAT GAA TGT AAT ATA GAT GAG| GTG AAA AAT GTT TAT TTC AAA AAT TTT ATA CCT TTT ATG
his glu cys asn ile asp glu| val lys asn val tyr phe lys asn phe ile pro phe met
. . . . . . . . . . gly . /| ala . . . . . . . . . . . . . . . . . . . . . . . .
. . . . . . . . . . . . . .| . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . .. . . . . . . . . . . . . . . . . . . . . | exon10. . . . . . . . . . .
301 302 303 304 305 306 307 308 309 310 311 312 313| 314 315 316 317 318 319 320
AAT TCT CTT GGA CTT GTA ACA TCT AAT GGA CTT CCA GAG| GTT GAA AAT CTT TCT AAA CGA
asn ser leu gly leu val thr ser asn gly leu pro glu| val glu asn leu ser lys arg
. . . . his . . arg . . ile . . . . glu . . . . . /| . . . . . . . . . . arg . .
. . . . . . . . . . . . . . . . . . . . . . . . . /| . . . . . . . . . . . . . .


. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
321 322 323 324 325 326 327 328 329 330 331 332 333 334 335 336 337 338 339 340
TAC GAA GAA ATT TAT CTT AAA AAT AAA GAT CTA GAT GCA AGA TTA TTT TTG GAT CAT GAT
tyr glu glu ile tyr leu lys asn lys asp leu asp ala arg leu phe leu asp his asp
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . .. . . . . . . . . . . . . . .| exon11 . . . . . . . . . . . . . . . . .
341 342 343 344 345 346 347 348 349 35|0 351 352 353 354 355 356 357 358 359 360
AAA ACT CTT CAG ACT GAT TCT ATA GAC AG|T TTT GAA ACA CAG AGA ACA CCA CGA AAA AGT
lys thr leu gln thr asp ser ile asp se|r phe glu thr gln arg thr pro arg lys ser
. . . . . . . . . . . . . . . . . . is|o cys . . . . . . . . . . . . . . . . . .
. . . . . . . . . . . . . . . . . . -----exon skipping----- . . . . . . . . . .


. . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . .|exon12. . . . . .
361 362 363 364 365 366 367 368 369 370 371 372 373 374 375 37|6 377 378 379 380
AAC CTT GAT GAA GAG GTG AAT GTA ATT CCT CCA CAC ACT CCA GTT AG|G ACT GTT ATG AAC
asn leu asp glu glu val asn val ile pro pro his thr pro val ar|g thr val met asn
. . . . . . . . . . . . . . . . . . . . . . . . . . . . /// . |. ser . . . . . .
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . |. . . . . . . . .


. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
381 382 383 384 385 386 387 388 389 390 391 392 393 394 395 396 397 398 399 400
ACT ATC CAA CAA TTA ATG ATG ATT TTA AAT TCA GCA AGT GAT CAA CCT TCA GAA AAT CTG
thr ile gln gln leu met met ile leu asn ser ala ser asp gln pro ser glu asn leu
tyr . . . . . . . . . . . . . . . . . . leu . . . . . . . . . . . . . . . . . .
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


. . . . . . . . . .
401 402 403 404 405
ATT TCC TAT TTT AAC
ile ser tyr phe asn
. . . . . . . . . .

Other topics on this wiki

Deep intronic mutations
  • Intron 6
  • Intron 8
  • Intron 23
  • Intron :?:
Genetic Interpretation
  • interpretation of a de novo mutation: would you consider any de novo mutation in a sporadic RB as deleterious? when tumour is available and this mutation found with another deleterious hit (eg LOH), could you rate this supplementary argument? and how?
  • new variant

we have a bilateral sporadic RB (no tumour available) with a L662R (very similar to the L662P reported by Dietmar), mother does not carry the L662R and the father is untested in Algeria (however he is from a sibship of 5 with no history of RB or blindness but note this L662R might be a LP one..?). Would you use it for genetic counselling? The proband has 2 sisters. Thank you Claude

Best Practice Guidelines

Follow up eye exams

  • Siblings of patients with sporadic disease


also see

Mutations in N-term

Draft: Internal Documents

 
start.txt · Last modified: 2014/01/08 15:58 by dietmar
 
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