PDB ID 4DRX     CHAIN B
Protein name Tubulin beta chain
Uniprot Accession D0VWY9
The number of similar proteins 242
The number of binding states 12
The number of binding partners 8

Coloring

Unicolor (beige)

The number of binding partners

Group

Downdload

Format:

Molecule viewer

#binding
partners
  8
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   MREIVHIQAG   QCGNQIGAKF   WEVISDEHGI   DPTGSYHGDS   DLQLERINVY   50
51   YNEATGNKYV   PRAILVDLEP   GTMDSVRSGP   FGQIFRPDNF   VFGQSGAGNN   100
101   WAKGHYTEGA   ELVDSVLDVV   RKESESCDCL   QGFQLTHSLG   GGTGSGMGTL   150
151   LISKIREEYP   DRIMNTFSVM   PSPKVSDTVV   EPYNATLSVH   QLVENTDETY   200
201   SIDNEALYDI   CFRTLKLTTP   TYGDLNHLVS   ATMSGVTTCL   RFPGQLNADL   250
251   RKLAVNMVPF   PRLHFFMPGF   APLTSRGSQQ   YRALTVPELT   QQMFDSKNMM   300
301   AACDPRHGRY   LTVAAIFRGR   MSMKEVDEQM   LNVQNKNSSY   FVEWIPNNVK   350
351   TAVCDIPPRG   LKMSATFIGN   STAIQELFKR   ISEQFTAMFR   RKAFLHWYTG   400
401   EGMDEMEFTE   AESNMNDLVS   EYQQYQDATA   D     450

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(4.7kJPN)
Disease name
1_MET THR 4.7kJPN
chr20:57594579
-
- 0.0001 -
2_ARG GLY ClinVar
chr19:6502220
rs587776983
Pathogenic - Autosomal dominant torsion dystonia 4 [MedGen:C1851943,OMIM:128101,Orphanet:ORPHA98805]; Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
2_ARG GLN ClinVar
chr19:6502219
rs587777467
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]; not provided [MedGen:CN517202]
2_ARG LYS ClinVar
chr10:95174
rs869025273
Pathogenic - Oocyte maturation defect 2 [MedGen:C4225210,OMIM:616780]
2_ARG TRP ClinVar
chr19:6502220
rs587776983
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
11_GLN HIS ClinVar
chr6:3227745
rs1135401758
Likely pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]; not provided [MedGen:CN517202]
14_ASN LYS 4.7kJPN
chr20:57594619
-
- 0.0001 -
15_GLN LYS ClinVar
chr6:30688326
rs864321676
Pathogenic - Michelin-tire baby [MedGen:C4551592,OMIM:156610,SNOMED CT:239142006]
19_LYS GLN ClinVar
chr6:3227723
rs1057517932
Likely pathogenic - not provided [MedGen:CN517202]
31_ASP GLY 4.7kJPN
chr18:12308720
-
- 0.0001 -
35_THR SER 4.7kJPN
chr9:140136218
-
- 0.0002 -
37_HIS ASN 4.7kJPN
chr6:3156335
-
- 0.0001 -
38_GLY ARG 4.7kJPN
chr20:57597954
rs144337011
- 0.0288 -
40_SER LEU 4.7kJPN
chr20:57597961
rs370292051
- 0.0001 -
42_LEU VAL 4.7kJPN
chr10:94786
rs536693166
- 0.0052 -
45_GLN PRO 4.7kJPN
chr20:57597970
rs463312
- 0.0785 -
45_GLN HIS 4.7kJPN
chr20:57597971
rs415064
- 0.0785 -
47_GLU ASP 4.7kJPN
chr6:3156309
-
- 0.0001 -
47_GLU ASP 4.7kJPN
chr9:140136250
-
- 0.0001 -
47_GLU ASP 4.7kJPN
chr16:89999056
-
- 0.0001 -
48_ARG TRP ClinVar
chr16:89999057
rs1555625363
Likely pathogenic - Cortical dysplasia, complex, with other brain malformations 1 [MedGen:C3808397,OMIM:614039]
50_ASN LYS 4.7kJPN
chr6:3156300
-
- 0.0002 -
50_ASN SER 4.7kJPN
chr6:3156301
-
- 0.0001 -
50_ASN SER 4.7kJPN
chr9:140136258
-
- 0.0001 -
50_SER GLY 4.7kJPN
chr20:57597984
-
- 0.0001 -
51_VAL MET 4.7kJPN
chr20:57597987
rs368009095
- 0.0001 -
64_ARG GLN ClinVar
chr16:89999894
rs864321714
Pathogenic - Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [MedGen:C2748801,OMIM:600638]
71_GLU GLN ClinVar
chr6:3226465
rs1554126964
Likely pathogenic - not provided [MedGen:CN517202]
72_PRO LEU 4.7kJPN
chr10:94623
rs782247878
- 0.0001 -
73_GLY ARG ClinVar
chr16:89999920
rs864321715
Pathogenic - Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [MedGen:C2748801,OMIM:600638]; not provided [MedGen:CN517202]
78_VAL MET 4.7kJPN
chr18:12311001
rs11548175
- 0.0001 -
79_ARG SER 4.7kJPN
chr19:6501346
-
- 0.0001 -
82_PRO LEU 4.7kJPN
chr10:94593
rs1554738799
- 0.0028 -
87_PHE LEU 4.7kJPN
chr10:94579
rs1335517436
- 0.0101 -
88_ARG GLN 4.7kJPN
chr18:12311032
rs143181795
- 0.0001 -
98_GLY ARG ClinVar
chr19:6496224
rs1131691696
Pathogenic/Likely pathogenic - not provided [MedGen:CN517202]
100_GLY ARG ClinVar
chr6:3226031
rs797046075
Pathogenic/Likely pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]; not provided [MedGen:CN517202]
100_GLY ARG ClinVar
chr6:3155143
rs1064795334
Pathogenic - not provided [MedGen:CN517202]
100_GLY ARG 4.7kJPN
chr10:94040
rs1339474843
- 0.0001 -
107_HIS ARG 4.7kJPN
chr10:94018
rs9329307
- 0.0974 -
108_TYR TER ClinVar
chr20:57598800
-
Pathogenic - Congenital hypothyroidism [Human Phenotype Ontology:HP:0000851,MedGen:C0010308,Orphanet:ORPHA442,SNOMED CT:190268003]
110_GLU LYS ClinVar
chr6:30691161
rs1057518412
Likely pathogenic - not provided [MedGen:CN517202]
110_GLU LYS 4.7kJPN
chr10:94010
rs541770879
- 0.0001 -
111_GLY VAL 4.7kJPN
chr10:94006
rs368995010
- 0.0602 -
112_ALA THR 4.7kJPN
chr10:94004
rs145405488
- 0.0003 -
115_MET THR 4.7kJPN
chr10:93994
rs61839058
- 0.0013 -
117_ALA THR 4.7kJPN
chr19:6496167
rs1399440240
- 0.0001 -
119_LEU PRO ClinVar
chr6:3225973
rs397514569
Likely pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]; not provided [MedGen:CN517202]
121_VAL ILE 4.7kJPN
chr10:93977
rs147863681
- 0.0001 -
126_CYS GLY 4.7kJPN
chr16:90001229
-
- 0.0001 -
126_CYS SER 4.7kJPN
chr16:90001230
-
- 0.0001 -
126_CYS TER 4.7kJPN
chr16:90001231
-
- 0.0001 -
128_SER ASN 4.7kJPN
chr10:93955
-
- 0.0002 -
128_ASN SER 4.7kJPN
chr16:90001236
-
- 0.0001 -
131_CYS TRP 4.7kJPN
chr19:6496123
-
- 0.0001 -
134_GLY SER ClinVar
chr6:3155041
rs1064795249
Likely pathogenic - not provided [MedGen:CN517202]
144_GLY SER ClinVar
chr16:90001283
rs1131691895
Likely pathogenic - not provided [MedGen:CN517202]
144_GLY CYS 4.7kJPN
chr20:57598906
-
- 0.0001 -
149_MET LEU 4.7kJPN
chr18:12325227
-
- 0.0001 -
151_THR PRO 4.7kJPN
chr20:57598927
-
- 0.0004 -
152_LEU PHE 4.7kJPN
chr16:90001309
-
- 0.0001 -
154_LEU ILE 4.7kJPN
chr10:93878
rs782796368
- 0.0008 -
157_VAL MET 4.7kJPN
chr16:90001322
-
- 0.0001 -
158_ARG LEU ClinVar
chr19:6496043
rs587777429
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
161_PHE TYR 4.7kJPN
chr18:12325264
-
- 0.0001 -
162_PRO LEU ClinVar
chr20:57598961
-
Pathogenic - Congenital hypothyroidism [Human Phenotype Ontology:HP:0000851,MedGen:C0010308,Orphanet:ORPHA442,SNOMED CT:190268003]
167_ASN ASP 4.7kJPN
chr18:12325281
-
- 0.0001 -
167_ASN ILE 4.7kJPN
chr18:12325282
-
- 0.0001 -
167_ASN LYS 4.7kJPN
chr18:12325283
-
- 0.0001 -
167_ASN LYS 4.7kJPN
chr20:57598977
-
- 0.0001 -
171_ILE VAL 4.7kJPN
chr10:93827
rs142619172
- 0.0056 -
171_VAL ILE 4.7kJPN
chr20:57598987
rs764400206
- 0.0002 -
172_MET VAL 4.7kJPN
chr18:12325296
-
- 0.0001 -
174_SER PRO ClinVar
chr6:3225809
rs137853194
Pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]
174_SER LEU ClinVar
chr6:3225808
rs1554126925
Likely pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]
177_VAL LEU ClinVar
chr16:90001382
rs1555625571
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
178_SER LEU ClinVar
chr10:93805
rs869025609
Pathogenic - Oocyte maturation defect 2 [MedGen:C4225210,OMIM:616780]
180_THR ARG ClinVar
chr19:6495977
rs587777468
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
180_THR MET ClinVar
chr6:3154902
rs886039447
Pathogenic - not provided [MedGen:CN517202]
180_THR MET ClinVar
chr19:6495977
rs587777468
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
180_THR SER ClinVar
chr6:30691372
rs1057520046
Likely pathogenic - not provided [MedGen:CN517202]
180_THR MET ClinVar
chr6:3225790
rs1057520391
Pathogenic - not provided [MedGen:CN517202]
181_VAL LEU ClinVar
chr19:6495975
rs1057517986
Pathogenic - not provided [MedGen:CN517202]
181_VAL MET 4.7kJPN
chr10:93797
rs782262099
- 0.0035 -
184_PRO THR ClinVar
chr19:6495966
rs886041008
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
186_ASN LYS 4.7kJPN
chr6:3225771
rs1323796901
- 0.0005 -
187_ALA THR 4.7kJPN
chr6:3154882
rs76334433
- 0.0054 -
187_ALA THR 4.7kJPN
chr6:3225770
rs146544321
- 0.0313 -
187_ALA VAL 4.7kJPN
chr10:93778
rs782272071
- 0.0007 -
191_ILE VAL 4.7kJPN
chr16:90001424
-
- 0.0001 -
192_HIS TYR ClinVar
chr19:6495942
rs761635539
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
194_LEU MET 4.7kJPN
chr20:57599056
-
- 0.0003 -
195_ILE THR 4.7kJPN
chr20:57599060
rs141698221
- 0.0001 -
196_GLU LYS ClinVar
chr6:3154855
rs1554122959
Pathogenic - not provided [MedGen:CN517202]
196_GLU ASP 4.7kJPN
chr20:57599064
rs186106638
- 0.0016 -
202_TYR PHE 4.7kJPN
chr19:6495911
-
- 0.0001 -
203_SER CYS 4.7kJPN
chr6:3154833
rs1054331
- 0.0001 -
203_CYS SER 4.7kJPN
chr19:6495909
-
- 0.0002 -
207_GLU LYS ClinVar
chr16:90001472
rs878853257
Pathogenic - Cortical dysplasia, complex, with other brain malformations 1 [MedGen:C3808397,OMIM:614039]
207_GLU ALA ClinVar
chr16:90001473
rs1057518593
Likely pathogenic - not provided [MedGen:CN517202]
215_ARG SER 4.7kJPN
chr9:140137309
-
- 0.0001 -
215_LYS ARG 4.7kJPN
chr10:93694
rs144539776
- 0.0572 -
215_ARG HIS 4.7kJPN
chr20:57599120
rs62639975
- 0.0001 -
218_LYS ARG ClinVar
chr6:30691486
rs1059145
Likely pathogenic - not provided [MedGen:CN517202]
220_ALA THR 4.7kJPN
chr16:90001511
-
- 0.0001 -
220_THR MET 4.7kJPN
chr20:57599135
rs539171911
- 0.0001 -
223_THR ILE ClinVar
chr6:30691501
rs878853162
Pathogenic - Cortical dysplasia, complex, with other brain malformations 6 [MedGen:C4014283,OMIM:615771]
223_THR SER 4.7kJPN
chr6:3225662
-
- 0.0001 -
223_THR SER 4.7kJPN
chr16:90001520
-
- 0.0001 -
224_TYR PHE ClinVar
chr6:30691504
rs864321677
Pathogenic - Michelin-tire baby [MedGen:C4551592,OMIM:156610,SNOMED CT:239142006]
225_GLY ARG 4.7kJPN
chr18:12325455
rs776501959
- 0.0014 -
230_LEU PRO ClinVar
chr6:3225640
rs137853195
Pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]
230_LEU VAL ClinVar
chr6:30691521
rs1057524718
Likely pathogenic - not provided [MedGen:CN517202]
231_VAL ALA ClinVar
chr10:93646
rs869025271
Pathogenic - Oocyte maturation defect 2 [MedGen:C4225210,OMIM:616780]
232_SER LEU ClinVar
chr16:90001548
rs886041459
Pathogenic - not provided [MedGen:CN517202]
235_MET VAL 4.7kJPN
chr10:93635
rs200242637
- 0.0639 -
238_VAL ILE 4.7kJPN
chr16:90001565
-
- 0.0001 -
240_THR MET ClinVar
chr10:93619
rs1057520306
Pathogenic - Oocyte maturation defect 2 [MedGen:C4225210,OMIM:616780]
241_CYS PHE ClinVar
chr6:3225607
rs878853284
Pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]
241_CYS PHE ClinVar
chr19:6495794
rs886041009
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
241_SER TRP 4.7kJPN
chr18:12325504
-
- 0.0001 -
243_ARG HIS ClinVar
chr6:3225601
rs1064794314
Likely pathogenic - not provided [MedGen:CN517202]
243_ARG SER 4.7kJPN
chr16:90001580
-
- 0.0001 -
244_PHE LEU ClinVar
chr6:3154711
rs1554122948
Likely pathogenic - not provided [MedGen:CN517202]
245_PRO LEU ClinVar
chr6:3154707
rs1554122947
Pathogenic - not provided [MedGen:CN517202]
246_GLY VAL ClinVar
chr19:6495779
rs886041010
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
246_GLY ASP ClinVar
chr19:6495779
rs886041010
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
246_GLY SER ClinVar
chr19:6495780
rs886041007
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
246_GLY ALA ClinVar
chr6:3154704
rs1057521918
Likely pathogenic - not provided [MedGen:CN517202]
248_LEU ARG 4.7kJPN
chr20:57599219
-
- 0.0002 -
249_ASN LYS ClinVar
chr6:3154694
rs886037663
Pathogenic - Cortical dysplasia, complex, with other brain malformations 5 [MedGen:C3810407,OMIM:615763]
250_ALA VAL ClinVar
chr6:3225580
rs777598117
Likely pathogenic - not provided [MedGen:CN517202]
250_ALA VAL 4.7kJPN
chr6:3154692
rs2808001
- 0.0061 -
250_ALA VAL 4.7kJPN
chr6:3225580
rs777598117
- 0.0206 -
251_ASP ASN ClinVar
chr19:6495765
rs483352809
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]; not provided [MedGen:CN517202]
251_ASP ASN 4.7kJPN
chr20:57599227
-
- 0.0001 -
257_VAL ILE ClinVar
chr19:6495747
rs767399782
Pathogenic/Likely pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]; not provided [MedGen:CN517202]
257_VAL ILE ClinVar
chr16:90001622
rs1057517908
Likely pathogenic - not provided [MedGen:CN517202]
262_PHE SER ClinVar
chr20:57599261
rs1057517996
Likely pathogenic - not provided [MedGen:CN517202]
262_PHE SER 4.7kJPN
chr20:57599261
rs1057517996
- 0.002 -
264_ARG CYS ClinVar
chr16:90001643
rs267607162
Pathogenic - Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [MedGen:C2748801,OMIM:600638]; not provided [MedGen:CN517202]
264_ARG HIS ClinVar
chr16:90001644
rs864321716
Pathogenic - Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [MedGen:C2748801,OMIM:600638]; not provided [MedGen:CN517202]
264_ARG GLN ClinVar
chr10:93547
rs869025610
Pathogenic - Oocyte maturation defect 2 [MedGen:C4225210,OMIM:616780]
264_ARG HIS ClinVar
chr19:6495725
rs886039470
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]; not provided [MedGen:CN517202]
264_ARG TRP 4.7kJPN
chr10:93548
rs782486119
- 0.0044 -
267_PHE LEU ClinVar
chr6:3225530
rs137853196
Pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]
273_ALA THR ClinVar
chr19:6495699
rs587777074
Pathogenic - Autosomal dominant torsion dystonia 4 [MedGen:C1851943,OMIM:128101,Orphanet:ORPHA98805]
276_THR ILE 4.7kJPN
chr16:90001680
-
- 0.0001 -
278_ARG GLN 4.7kJPN
chr10:93505
rs147114528
- 0.0524 -
280_SER ARG ClinVar
chr16:90001693
rs1085308026
Likely pathogenic - not provided [MedGen:CN517202]
284_ARG PRO ClinVar
chr19:6495665
rs756762431
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
284_ARG PRO ClinVar
chr16:90001704
rs1064795231
Likely pathogenic - not provided [MedGen:CN517202]
284_ARG TRP 4.7kJPN
chr10:93488
rs371080326
- 0.0015 -
285_ALA SER 4.7kJPN
chr6:3225476
-
- 0.0001 -
287_THR SER 4.7kJPN
chr16:90001712
-
- 0.0001 -
287_THR SER 4.7kJPN
chr19:6495657
-
- 0.0001 -
290_GLU LYS ClinVar
chr16:90001721
rs1057521924
Pathogenic - not provided [MedGen:CN517202]
292_THR ILE 4.7kJPN
chr20:57599351
rs762759390
- 0.0017 -
293_GLN PRO ClinVar
chr6:3154563
rs863224939
Likely pathogenic - Cortical dysplasia, complex, with other brain malformations 5 [MedGen:C3810407,OMIM:615763]
293_GLN LYS ClinVar
chr6:3225452
rs1554126886
Likely pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]
293_GLN HIS 4.7kJPN
chr19:6495637
-
- 0.0001 -
294_GLN LYS ClinVar
chr19:6495636
rs886041011
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
295_MET VAL 4.7kJPN
chr16:90001736
-
- 0.0001 -
295_MET VAL 4.7kJPN
chr19:6495633
-
- 0.0001 -
298_SER ALA 4.7kJPN
chr6:3225437
-
- 0.0001 -
298_ALA SER 4.7kJPN
chr16:90001745
-
- 0.0001 -
301_MET VAL ClinVar
chr6:30691734
rs587777355
Pathogenic - Cortical dysplasia, complex, with other brain malformations 6 [MedGen:C4014283,OMIM:615771]
302_MET ILE ClinVar
chr10:93432
rs869025612
Pathogenic - Oocyte maturation defect 2 [MedGen:C4225210,OMIM:616780]
302_MET ILE ClinVar
chr19:6495610
rs886041012
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
304_ALA THR ClinVar
chr16:90001763
rs267607163
Pathogenic - Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [MedGen:C2748801,OMIM:600638]; not provided [MedGen:CN517202]
304_ALA VAL ClinVar
chr16:90001764
rs878853258
Pathogenic - Cortical dysplasia, complex, with other brain malformations 1 [MedGen:C3808397,OMIM:614039]
305_CYS ARG 4.7kJPN
chr10:93425
rs41304577
- 0.0289 -
306_ASP ALA 4.7kJPN
chr6:30691750
rs747201319
- 0.0025 -
306_ASP ALA 4.7kJPN
chr9:140137581
rs759883826
- 0.0038 -
308_ARG HIS 4.7kJPN
chr20:57599399
rs772479017
- 0.0001 -
309_ARG HIS 4.7kJPN
chr20:57599402
rs6070697
- 0.1166 -
311_ARG CYS 4.7kJPN
chr10:93407
rs782628556
- 0.0386 -
315_ALA VAL 4.7kJPN
chr10:93394
rs199826048
- 0.0004 -
316_ALA VAL ClinVar
chr19:6495569
rs886041013
Pathogenic/Likely pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]; not provided [MedGen:CN517202]
317_THR ALA 4.7kJPN
chr16:90001802
-
- 0.0001 -
318_VAL MET 4.7kJPN
chr19:6495564
-
- 0.0001 -
320_ARG TRP ClinVar
chr20:57599434
rs121918555
Pathogenic - MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED [MedGen:C2751259,OMIM:613112]
320_ARG TRP 4.7kJPN
chr20:57599434
rs121918555
- 0.0002 -
320_ARG GLN 4.7kJPN
chr20:57599435
rs370105172
- 0.0002 -
322_ARG HIS 4.7kJPN
chr9:140137629
rs868154988
- 0.0001 -
322_ARG HIS 4.7kJPN
chr16:90001818
rs772334489
- 0.0001 -
322_LYS ARG 4.7kJPN
chr20:57599441
-
- 0.0003 -
324_SER PHE ClinVar
chr6:3225358
rs587784502
Likely pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]
325_MET VAL ClinVar
chr16:90001826
rs878853256
Pathogenic - Cortical dysplasia, complex, with other brain malformations 1 [MedGen:C3808397,OMIM:614039]
325_MET ARG ClinVar
chr19:6495542
rs886041014
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
330_GLU LYS ClinVar
chr16:90001841
rs1057518686
Likely pathogenic - Cortical dysplasia, complex, with other brain malformations 1 [MedGen:C3808397,OMIM:614039]
334_SER ASN 4.7kJPN
chr19:6495515
rs1433294362
- 0.0001 -
335_ILE MET 4.7kJPN
chr16:90001858
-
- 0.0001 -
337_SER ASN 4.7kJPN
chr16:90001863
rs535937255
- 0.0001 -
337_SER ASN 4.7kJPN
chr19:6495506
-
- 0.0001 -
342_TYR CYS 4.7kJPN
chr6:30691858
rs1392325125
- 0.0001 -
347_ILE PHE ClinVar
chr6:3154402
rs797046074
Pathogenic/Likely pathogenic - Cortical dysplasia, complex, with other brain malformations 5 [MedGen:C3810407,OMIM:615763]
351_VAL ILE 4.7kJPN
chr10:93287
rs572455524
- 0.0065 -
353_VAL ALA 4.7kJPN
chr16:90001911
-
- 0.0001 -
354_ALA THR ClinVar
chr19:6495456
rs886041015
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
355_VAL ILE ClinVar
chr6:30691896
rs587777356
Pathogenic - Cortical dysplasia, complex, with other brain malformations 6 [MedGen:C4014283,OMIM:615771]
356_CYS TYR ClinVar
chr19:6495449
rs886041016
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
356_CYS TRP ClinVar
chr19:6495448
rs748787734
Likely pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
359_PRO LEU 4.7kJPN
chr20:57599552
rs200564118
- 0.0001 -
371_LEU ILE ClinVar
chr16:90001940
rs1064794940
Likely pathogenic - not provided [MedGen:CN517202]
373_MET THR ClinVar
chr10:93244
rs869025611
Pathogenic - Oocyte maturation defect 2 [MedGen:C4225210,OMIM:616780]
374_ALA ASP ClinVar
chr19:6495419
rs886041017
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
374_ALA SER 4.7kJPN
chr19:6495420
rs780133949
- 0.0001 -
375_SER ALA 4.7kJPN
chr16:90001952
-
- 0.0001 -
375_ALA VAL 4.7kJPN
chr19:6495416
rs1053267
- 0.0001 -
377_PHE LEU ClinVar
chr19:6495411
rs886041018
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
377_PHE ILE ClinVar
chr19:6495411
rs886041018
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
379_GLY TRP 4.7kJPN
chr10:93227
-
- 0.0001 -
387_LEU MET 4.7kJPN
chr16:90001988
-
- 0.0001 -
390_ARG LEU ClinVar
chr6:3225184
rs587784498
Likely pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]
390_ARG CYS ClinVar
chr16:90001997
rs864321717
Pathogenic - Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [MedGen:C2748801,OMIM:600638]; not provided [MedGen:CN517202]
394_GLN HIS 4.7kJPN
chr6:30691991
-
- 0.0001 -
396_THR SER 4.7kJPN
chr16:90002015
-
- 0.0001 -
398_MET ILE ClinVar
chr19:6495346
rs797045074
Likely pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
398_MET VAL ClinVar
chr16:90002021
rs878853279
Pathogenic - Cortical dysplasia, complex, with other brain malformations 1 [MedGen:C3808397,OMIM:614039]
398_MET ILE ClinVar
chr19:6495346
rs797045074
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
398_MET THR ClinVar
chr19:6495347
rs886041020
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
398_MET VAL ClinVar
chr19:6495348
rs886041019
Likely pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]; not provided [MedGen:CN517202]
400_ARG TRP 4.7kJPN
chr18:12325956
rs770131649
- 0.0001 -
401_ARG LEU ClinVar
chr16:90002031
rs886039497
Pathogenic - not provided [MedGen:CN517202]
401_ARG HIS ClinVar
chr19:6495338
rs886041021
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
401_ARG HIS ClinVar
chr6:3154263
rs1057521250
Likely pathogenic - not provided [MedGen:CN517202]
401_ARG LEU ClinVar
chr19:6495338
rs886041021
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]; not provided [MedGen:CN517202]
401_ARG HIS ClinVar
chr9:140137842
rs1554786803
Pathogenic - LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS [MedGen:C4693498,OMIM:617879]
401_ARG CYS ClinVar
chr9:140137841
rs1554786802
Pathogenic - LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS [MedGen:C4693498,OMIM:617879]
404_PHE CYS ClinVar
chr19:6495329
rs886041022
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
404_PHE SER ClinVar
chr18:12325969
rs1555669248
Pathogenic - FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION [MedGen:C4540277,OMIM:617732]
405_LEU PHE 4.7kJPN
chr19:6495325
-
- 0.0001 -
406_HIS ARG 4.7kJPN
chr10:93145
-
- 0.0001 -
407_TRP ARG ClinVar
chr6:3225134
rs1057520787
Likely pathogenic - not provided [MedGen:CN517202]
408_TYR PHE 4.7kJPN
chr16:90002052
-
- 0.0001 -
411_GLU LYS ClinVar
chr6:30692040
rs587777357
Pathogenic - Cortical dysplasia, complex, with other brain malformations 6 [MedGen:C4014283,OMIM:615771]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
411_GLU GLN 4.7kJPN
chr6:3225122
-
- 0.0001 -
413_MET ILE ClinVar
chr16:90002068
rs1131691632
Likely pathogenic - not provided [MedGen:CN517202]
414_ASP GLU 4.7kJPN
chr10:93120
-
- 0.0014 -
415_GLU ALA 4.7kJPN
chr6:3225109
-
- 0.0001 -
420_GLU LYS ClinVar
chr16:90002087
rs267607165
Pathogenic - Cortical dysplasia, complex, with other brain malformations 1 [MedGen:C3808397,OMIM:614039]; Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [MedGen:C2748801,OMIM:600638]
420_GLU LYS ClinVar
chr19:6495282
rs587777428
Pathogenic - Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
420_GLU ASP ClinVar
chr6:30692069
rs1085307486
Likely pathogenic - not provided [MedGen:CN517202]
420_GLU LYS 4.7kJPN
chr10:93104
-
- 0.0012 -
424_ASN HIS ClinVar
chr6:3154195
rs1057518044
Likely pathogenic - not provided [MedGen:CN517202]
427_ASP HIS ClinVar
chr16:90002108
rs267607164
Pathogenic - Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [MedGen:C2748801,OMIM:600638]
427_ASP ASN ClinVar
chr16:90002108
rs267607164
Pathogenic - Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [MedGen:C2748801,OMIM:600638]
427_ASP ASN ClinVar
chr6:3225074
rs397514567
Pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]
427_ASP ASN ClinVar
chr10:93083
rs869025272
Pathogenic - Oocyte maturation defect 2 [MedGen:C4225210,OMIM:616780]
431_GLU LYS ClinVar
chr6:3225062
rs398122369
Pathogenic - Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]
434_GLN TER 4.7kJPN
chr10:93062
rs1356357815
- 0.0001 -
439_THR PRO 4.7kJPN
chr6:3225038
-
- 0.0003 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.