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Summary by likely disease-causing variants


This table classifies all disease-causing mutations by type.

Mutation typeProportion of identified mutations
Missense mutation 85.1%
Nonsense mutation 5%
Small deletion (<21bp) 5%
Small indel (<21bp) 1%
Small insertion (<21bp) 4%
Repeat expansion0%
Complex rearrangement including inversions0%
Gross deletion (>20bp)0%
Gross insertion and duplication (>20bp)0%
Splicing mutation0%
Regulatory mutation0%
Non-coding region deletion0%
Non-coding region insertion0%
Non-coding region nucleotide substitution0%
Other0%

Frequency and location of mutations

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The following graph represents the frequency and location of mutations within the exons of the myocilin gene. Use the ideogram above to navigate to specific exon and intron regions represented in the graph below. Click the individual variant bars to view allele specific information pertaining to the variant.

Codon Variant Prevalence of variant %
0
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
101
102
103
104
105
106
107
108
109
110
111
112
113
114
115
116
117
118
119
120
121
122
123
124
125Arg125SerfsTer350.2%
126Arg126Trp0.3%
127
128
129
130
131
132
133
134
135
136
137
138
139
140
141
142
143
144
145
146
147
148
149
150
151
152
153
154
155
156
157
158
159
160
161
162Glu162dup0.2%
163
164
165
166
167
168
169
170
171
172
173
174
175
176
177
178
179
180
181
182
183
184
185
186
187
188
189
190
191
192
193
194
195
196
197
198
199
200
201
202
203
204
205
206
207
208
209
210
211
212
213
214
215Leu215Gln0.3%
216
217
218
219
220
221
222
223
224
225
226
227
228
229
230
231
232
233
234
235
236
237
238
239
240
241
242
243
244
245Cys245Tyr0.2%
246
247
248
249
250
251Val251Ala0.3%
252Gly252Arg1.2%
253
254
255Leu255Pro0.2%
256
257
258
259
260
261Glu261Lys0.5%
262
263
264
265
266
267
268
269
270
271
272Arg272Gly0.2%
273
274
275Lys275SerfsTer710.2%
276
277
278
279
280
281
282
283
284
285Thr285Met0.2%
286Trp286Arg1%
287
288
289
290
291
292
293
294
295
296Arg296Cys0.2%
297Gln297His0.3%
298
299
300Glu300Lys0.3%
301
302
303
304
305
306
307
308
309
310
311
312
313Ser313Phe0.3%
314
315
316
317
318
319
320
321
322
323Glu323Lys0.3%
324
325
326Gly326Ser0.2%
327
328
329Val329Met0.8%
330
331
332
333
334Leu334Pro0.2%
335
336
337Gln337Glu0.2%
338Asp338Asn0.3%
339
340
341Ser341Pro0.3%
342Arg342Lys0.7%
343
344
345Ile345Met0.2%
346Arg346Thr0.2%
347Tyr347Ter0.2%
348
349
350
351
352
353
354
355
356
357
358
359
360Ille360Asn0.3%
361Pro361Ser0.5%
362
363Ala363Thr0.8%
364Gly364Val4.3%
365
366
367Gly367Arg2%
368Gln368SerfsTer380.7%
368Gln368Ter30.9%
369Phe369Leu0.3%
370Pro370Leu5%
371
372
373Trp373Ter0.2%
374Gly374Val0.7%
375
376
377Thr377Lys0.2%
377Thr377Met14.6%
378Asp378Gly0.2%
379
380Asp380Ala3%
380Asp380Gly0.3%
380Asp380Asn0.7%
381
382
383
384Asp384His0.2%
385
386
387Gly387Asp0.3%
388
389
390
391
392
393Ser393Asn0.2%
393Ser393Arg0.3%
394
395
396Glu396dup1%
397
398
399Gly399Val0.2%
399Gly399Asp0.5%
400
401
402
403
404
405
406
407
408
409
410
411
412
413
414
415
416
417
418
419
420
421
422Arg422His0.2%
423Lys423Glu0.3%
424
425Ser425Pro
426Val426Phe0.3%
427Ala427Thr1%
428
429
430
431
432
433Cys433Arg1.7%
434Gly434Ser0.2%
435
436
437Tyr437His7.2%
438Thr438Ile0.2%
439
440
441
442
443
444
445
446
447
448Thr448Pro0.3%
449
450Asn450Asp0.2%
451
452
453Tyr453MetfsTer111.8%
454
455
456
457
458Gly458Asp0.2%
459
460
461
462
463
464
465Ile465Met0.2%
466
467
468
469
470Arg470Cys0.8%
471Tyr471Cys0.3%
472
473
474
475
476
477Ile477Asn3.5%
478
479Tyr479His0.3%
480Asn480Lys0.8%
481Pro481Leu0.3%
481Pro481Arg0.2%
481Pro481Ser0.2%
481Pro481Thr0.5%
482
483Glu483Ter0.3%
484
485
486Leu486Phe0.2%
487
488
489Trp489fs0.2%
490
491
492
493
494
495
496
497
498
499Ile499Phe0.2%
499Ile499Ser0.2%
500
501
502
503
504