The CSB mutations database

Statistics: Sequence of exon 5



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Potential stop codons from exon 5

AA position Wild type codon Wild type AA exon Species
219
CCG
Pro
5
1
220
GGG
Gly
5
1
221
CCA
Pro
5
1
222
TCC
Ser
5
1
223
AGT
Ser
5
1
224
CTT
Leu
5
1
225
GGC
Gly
5
1
226
AGC
Ser
5
1
227
ATG
Met
5
1
228
CTC
Leu
5
1
229
ATG
Met
5
1
230
CCT
Pro
5
1
231
GTC
Val
5
1
232
CAG
Gln
5
1
233
GAG
Glu
5
1
234
ACT
Thr
5
1
235
GCC
Ala
5
1
236
TGG
Trp
5
1
237
GAA
Glu
5
1
238
GAG
Glu
5
1
239
CTC
Leu
5
1
240
ATC
Ile
5
1
241
CGC
Arg
5
1
242
ACT
Thr
5
1
243
GGC
Gly
5
1
244
CAG
Gln
5
1
245
ATG
Met
5
1
246
ACA
Thr
5
1
247
CCT
Pro
5
1
248
TTT
Phe
5
1
249
GGT
Gly
5
1
250
ACC
Thr
5
1
251
CAG
Gln
5
1
252
ATC
Ile
5
1
253
CCT
Pro
5
1
254
CAG
Gln
5
1
255
AAA
Lys
5
1
256
CAG
Gln
5
1
257
GAG
Glu
5
1
258
AAA
Lys
5
1
259
AAG
Lys
5
1
260
CCC
Pro
5
1
261
AGA
Arg
5
1
262
AAA
Lys
5
1
263
ATC
Ile
5
1
264
ATG
Met
5
1
265
CTT
Leu
5
1
266
AAT
Asn
5
1
267
GAA
Glu
5
1
268
GCA
Ala
5
1
269
TCA
Ser
5
1
270
GGC
Gly
5
1
271
TTC
Phe
5
1
272
GAA
Glu
5
1
273
AAG
Lys
5
1
274
TAT
Tyr
5
1
275
TTG
Leu
5
1
276
GCA
Ala
5
1
277
GAT
Asp
5
1
278
CAA
Gln
5
1
279
GCA
Ala
5
1
280
AAA
Lys
5
1
281
CTG
Leu
5
1
282
TCT
Ser
5
1
283
TTT
Phe
5
1
284
GAA
Glu
5
1
285
AGG
Arg
5
1
286
AAG
Lys
5
1
287
AAG
Lys
5
1
288
CAA
Gln
5
1
289
GGT
Gly
5
1
290
TGT
Cys
5
1
291
AAT
Asn
5
1
292
AAA
Lys
5
1
293
AGA
Arg
5
1
294
GCA
Ala
5
1
295
GCT
Ala
5
1
296
AGA
Arg
5
1
297
AAA
Lys
5
1
298
GCT
Ala
5
1
299
CCA
Pro
5
1
300
GCC
Ala
5
1
301
CCA
Pro
5
1
302
GTC
Val
5
1
303
ACG
Thr
5
1
304
CCT
Pro
5
1
305
CCA
Pro
5
1
306
GCC
Ala
5
1
307
CCA
Pro
5
1
308
GTG
Val
5
1
309
CAA
Gln
5
1
310
AAT
Asn
5
1
311
AAA
Lys
5
1
312
AAC
Asn
5
1
313
AAA
Lys
5
1
314
CCA
Pro
5
1
315
AAC
Asn
5
1
316
AAG
Lys
5
1
317
AAA
Lys
5
1
318
GCC
Ala
5
1
319
AGA
Arg
5
1
320
GTT
Val
5
1
321
CTG
Leu
5
1
322
TCC
Ser
5
1
323
AAA
Lys
5
1
324
AAA
Lys
5
1
325
GAG
Glu
5
1
326
GAG
Glu
5
1
327
CGT
Arg
5
1
328
TTG
Leu
5
1
329
AAA
Lys
5
1
330
AAG
Lys
5
1
331
CAC
His
5
1
332
ATC
Ile
5
1
333
AAG
Lys
5
1
334
AAA
Lys
5
1
335
CTC
Leu
5
1
336
CAG
Gln
5
1
337
AAG
Lys
5
1
338
AGG
Arg
5
1
339
GCT
Ala
5
1
340
TTG
Leu
5
1
341
CAG
Gln
5
1
342
TTC
Phe
5
1
343
CAG
Gln
5
1
344
GGG
Gly
5
1
345
AAA
Lys
5
1
346
GTG
Val
5
1
347
GGA
Gly
5
1
348
TTG
Leu
5
1
349
CCA
Pro
5
1
350
AAG
Lys
5
1
351
GCA
Ala
5
1
352
AGG
Arg
5
1
353
AGA
Arg
5
1
354
CCT
Pro
5
1
355
TGG
Trp
5
1
356
GAG
Glu
5
1
357
TCA
Ser
5
1
358
GAC
Asp
5
1
359
ATG
Met
5
1
360
AGG
Arg
5
1
361
CCA
Pro
5
1
362
GAG
Glu
5
1
363
GCA
Ala
5
1
364
GAG
Glu
5
1
365
GGA
Gly
5
1
366
GAC
Asp
5
1
367
TCT
Ser
5
1
368
GAG
Glu
5
1
369
GGT
Gly
5
1
370
GAA
Glu
5
1
371
GAG
Glu
5
1
372
TCT
Ser
5
1
373
GAG
Glu
5
1
374
TAT
Tyr
5
1
375
TTC
Phe
5
1
376
CCC
Pro
5
1
377
ACA
Thr
5
1
378
GAG
Glu
5
1
379
GAG
Glu
5
1
380
GAG
Glu
5
1
381
GAA
Glu
5
1
382
GAG
Glu
5
1
383
GAG
Glu
5
1
384
GAA
Glu
5
1
385
GAT
Asp
5
1
386
GAC
Asp
5
1
387
GAG
Glu
5
1
388
GTG
Val
5
1
389
GAG
Glu
5
1
390
GGG
Gly
5
1
391
GCA
Ala
5
1
392
GAG
Glu
5
1
393
GCG
Ala
5
1
394
GAC
Asp
5
1
395
CTG
Leu
5
1
396
TCT
Ser
5
1
397
GGA
Gly
5
1
398
GAT
Asp
5
1
399
GGT
Gly
5
1
400
ACT
Thr
5
1
401
GAC
Asp
5
1
402
TAT
Tyr
5
1
403
GAG
Glu
5
1
404
CTG
Leu
5
1
405
AAG
Lys
5
1
406
CCT
Pro
5
1
407
CTG
Leu
5
1
408
CCC
Pro
5
1
409
AAG
Lys
5
1
410
GGC
Gly
5
1
411
GGG
Gly
5
1
412
AAA
Lys
5
1
413
CGG
Arg
5
1
414
CAG
Gln
5
1
415
AAG
Lys
5
1
416
AAA
Lys
5
1
417
GTG
Val
5
1
418
CCA
Pro
5
1
419
GTG
Val
5
1
420
CAG
Gln
5
1
421
GAG
Glu
5
1
422
ATT
Ile
5
1
423
GAT
Asp
5
1
424
GAT
Asp
5
1
425
GAC
Asp
5
1
426
TTT
Phe
5
1
427
TTC
Phe
5
1
428
CCA
Pro
5
1
429
AGT
Ser
5
1
430
TCT
Ser
5
1
431
GGG
Gly
5
1
432
GAA
Glu
5
1
433
GAA
Glu
5
1
434
GCT
Ala
5
1
435
GAA
Glu
5
1
436
GCT
Ala
5
1
437
GCT
Ala
5
1
438
TCT
Ser
5
1
439
GTA
Val
5
1
440
GGA
Gly
5
1
441
GAA
Glu
5
1
442
GGA
Gly
5
1
443
GGA
Gly
5
1
444
GGA
Gly
5
1
445
GGA
Gly
5
1
446
GGT
Gly
5
1
447
CGG
Arg
5
1
448
AAA
Lys
5
1
449
GTG
Val
5
1
450
GGA
Gly
5
1
451
AGA
Arg
5
1
452
TAC
Tyr
5
1
453
CGA
Arg
5
1
454
GAT
Asp
5
1
455
GAT
Asp
5
1
456
GGA
Gly
5
1
457
GAT
Asp
5
1
458
GAA
Glu
5
1
459
GAT
Asp
5
1
460
TAT
Tyr
5
1
461
TAT
Tyr
5
1
462
AAG
Lys
5
1
463
CAG
Gln
5
1
464
CGG
Arg
5
1
465
TTA
Leu
5
1
466
AGG
Arg
5-6
1

Red: Amino acids that can be mutated in a stop codon by a single substitution (example: GAT -> TAG)
Species: 1=Human; 2=Mammals; 3=Vertebrates