PDB ID 4DRX     CHAIN B
Protein name Tubulin beta chain
Uniprot Accession D0VWY9
The number of similar proteins 642
The number of binding states 17
The number of binding partners 10

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
4DRX (CHAIN: B)
1 P81947   5EIB  
2 6GWC  
3 D0VWZ0   4F61  
4 6GWD   6GWD  
5 D0VWZ0   Q9Z8L4  
6 A0A6P7DY20   Q9HC77  
7 D0VWZ0   D0VWZ0   4F61  
8 D0VWZ0   4HNA   P33176  
9 P81947   5ITZ   Q9HC77  
10 P81947   P81947   O00139  
11 D0VWZ0   6GVM   6GVM  
12 A0A6P7DY20   7Q1F   7Q1F  
13 P81947   P63043   Q8NG68  
14 P02550   6MZE   6MZE  
15 P02550   P02550   6MZG  
16 D0VWZ0   D0VWZ0   P63043   E1BQ43  
17 P81947   P81947   P63043   Q8NG68   Q8NG68   Q8NG68  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  >9
  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
(> 0.0001)		 Disease name
1_MET THR 8.3kJPN
chr20:57594579 		-
- 0.0001 -
2_ARG GLY ClinVar
chr19:6502220 		rs587776983
Pathogenic - Torsion dystonia 4|Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
2_ARG GLN ClinVar
chr19:6502219 		rs587777467
Pathogenic - Hypomyelinating leukodystrophy 6|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MedGen:C3661900]
2_ARG LYS ClinVar
chr10:95174 		rs869025273
Pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
2_ARG TRP ClinVar
chr19:6502220 		rs587776983
Pathogenic - Hypomyelinating leukodystrophy 6|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MedGen:C3661900]
2_ARG SER ClinVar
chr6:3227774 		rs1581526962
Pathogenic - Complex cortical dysplasia with other brain malformations 7|not provided [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573|MedGen:CN517202]
2_ARG LEU ClinVar
chr6:3157693 		rs1581499166
Likely pathogenic - not provided [MedGen:C3661900]
2_ARG HIS ClinVar
chr6:3227773 		rs2113820430
Likely pathogenic - not provided [MedGen:C3661900]
4_ILE LEU ClinVar
chr10:95169 		rs199817418
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
5_VAL ILE gnomAD
chr20:57594590 		rs145280665
- 0.000274463 -
7_ILE PHE 8.3kJPN
chr6:3227759 		-
- 0.0001 -
7_LEU VAL 8.3kJPN
chr9:140135831 		-
- 0.0005 -
9_ALA SER gnomAD
chr18:12308316 		rs202128106
- 0.000175152 -
9_ALA VAL gnomAD
chr18:12308317 		rs200294113
- 0.0001754 -
11_GLN HIS ClinVar
chr6:3227745 		rs1135401758
Likely pathogenic - Complex cortical dysplasia with other brain malformations 7|not provided [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573|MedGen:CN517202]
14_ASN LYS 8.3kJPN
chr20:57594619 		-
- 0.0001 -
15_GLN LYS ClinVar
chr6:30688326 		rs864321676
Pathogenic - Multiple benign circumferential skin creases on limbs 1 [MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610]
15_GLN HIS ClinVar
chr6:30688328 		rs1776147010
Likely pathogenic - Multiple benign circumferential skin creases on limbs 1 [MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610]
19_LYS GLN ClinVar
chr6:3227723 		rs1057517932
Likely pathogenic - not provided [MedGen:CN517202]
26_ASP HIS ClinVar
chr9:140136191 		rs2131433122
Likely pathogenic - not provided [MedGen:C3661900]
31_ASP ASN 8.3kJPN
chr6:3156353 		rs771723744
- 0.0001 -
31_ASP GLY 8.3kJPN
chr18:12308720 		-
- 0.0001 -
32_PRO LEU 8.3kJPN
chr9:140136210 		-
- 0.0001 -
32_PRO THR 8.3kJPN
chr16:89999015 		-
- 0.0001 -
35_THR SER 8.3kJPN
chr9:140136218 		-
- 0.0001 -
38_GLY ARG gnomAD
chr20:57597954 		rs144337011
- 0.0017065 -
38_GLY ARG 8.3kJPN
chr20:57597954 		rs144337011
- 0.0286 -
39_ASP ASN 8.3kJPN
chr16:89999036 		rs761851735
- 0.0001 -
40_SER LEU 8.3kJPN
chr20:57597961 		rs370292051
- 0.0001 -
42_LEU VAL gnomAD
chr10:94786 		rs536693166
- 0.000112269 -
42_LEU VAL 8.3kJPN
chr10:94786 		rs536693166
- 0.0057 -
45_GLN PRO gnomAD
chr20:57597970 		rs463312
- 0.0767618 -
45_GLN HIS gnomAD
chr20:57597971 		rs415064
- 0.0767367 -
45_GLN PRO 8.3kJPN
chr10:94782 		-
- 0.0001 -
45_GLN PRO 8.3kJPN
chr20:57597970 		rs463312
- 0.0784 -
45_GLN HIS 8.3kJPN
chr20:57597971 		rs415064
- 0.0784 -
48_ARG CYS ClinVar
chr10:94774 		rs1834414619
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
49_ILE VAL ClinVar
chr6:30690395 		rs1776361528
Likely pathogenic - Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
50_ASN LYS 8.3kJPN
chr6:3156300 		-
- 0.0002 -
50_SER GLY 8.3kJPN
chr20:57597984 		-
- 0.0001 -
51_VAL MET 8.3kJPN
chr20:57597987 		rs368009095
- 0.0001 -
52_TYR HIS ClinVar
chr6:3156296 		rs1762626709
Likely pathogenic - Complex cortical dysplasia with other brain malformations 5 [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
54_ASN SER ClinVar
chr6:30690411 		-
Likely pathogenic - not provided|Complex cortical dysplasia with other brain malformations 6 [MedGen:C3661900|MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
62_VAL LEU ClinVar
chr16:89999887 		rs2151092282
Likely pathogenic - Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
71_GLU GLN ClinVar
chr6:3226465 		rs1554126964
Likely pathogenic - not provided [MedGen:CN517202]
73_GLY ARG ClinVar
chr16:89999920 		rs864321715
Pathogenic - Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|not provided [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:C3661900]
73_GLY ALA ClinVar
chr16:89999921 		rs2151092293
Likely pathogenic - not provided [MedGen:C3661900]
73_GLY SER ClinVar
chr19:6501364 		-
Likely pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
78_VAL MET 8.3kJPN
chr18:12311001 		rs11548175
- 0.0001 -
79_ARG TER ClinVar
chr20:57598607 		rs767380935
Likely pathogenic - Macrothrombocytopenia|not provided [Human Phenotype Ontology:HP:0040185,MedGen:C2751260|MedGen:CN517202]
79_ARG SER 8.3kJPN
chr19:6501346 		-
- 0.0001 -
79_ARG TER 8.3kJPN
chr20:57598607 		rs767380935
- 0.0001 -
80_SER LEU gnomAD
chr10:94599 		rs140792516
- 0.000332183 -
82_PRO LEU 8.3kJPN
chr10:94593 		rs1554738799
- 0.0017 -
87_PHE LEU 8.3kJPN
chr10:94579 		rs1335517436
- 0.0062 -
88_ARG GLN gnomAD
chr18:12311032 		rs143181795
- 0.000115605 -
88_ARG GLN 8.3kJPN
chr18:12311032 		rs143181795
- 0.0001 -
89_PRO LEU ClinVar
chr6:30690788 		-
Likely pathogenic - Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
94_PHE LEU 8.3kJPN
chr10:94556 		rs782710819
- 0.0001 -
98_GLY ARG ClinVar
chr19:6496224 		rs1131691696
Pathogenic/Likely pathogenic - not provided|Hypomyelinating leukodystrophy 6|Hypomyelinating leukodystrophy 6 [MedGen:C3661900|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]; Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]
98_GLY GLU ClinVar
chr6:3226036 		-
Pathogenic - not provided [MedGen:C3661900]
100_GLY ARG ClinVar
chr6:3155143 		rs1064795334
Pathogenic/Likely pathogenic - not provided|Complex cortical dysplasia with other brain malformations 5 [MedGen:C3661900|MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
100_GLY ARG ClinVar
chr19:6496218 		rs1255699601
Likely pathogenic - not provided [MedGen:C3661900]
100_GLY ARG ClinVar
chr6:3155143 		rs1064795334
Pathogenic/Likely pathogenic - Complex cortical dysplasia with other brain malformations 5|TUBB2A-related condition [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763|]
100_GLY ARG ClinVar
chr10:94040 		rs1339474843
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
100_GLY VAL ClinVar
chr6:3155142 		rs2113785712
Likely pathogenic - Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
100_GLY ARG 8.3kJPN
chr10:94040 		rs1339474843
- 0.0001 -
101_ASN LYS ClinVar
chr20:57598779 		rs1601238563
Likely pathogenic - Macrothrombocytopenia [Human Phenotype Ontology:HP:0040185,MedGen:C2751260]
101_ASN SER ClinVar
chr6:3155139 		rs2113785705
Pathogenic - not provided [MedGen:C3661900]
102_ASN TYR ClinVar
chr6:3226025 		rs1757279879
Likely pathogenic - Lissencephaly [Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471]
102_ASN SER gnomAD
chr10:94033 		rs561705922
- 0.0002111 -
103_TRP SER gnomAD
chr10:94030 		rs151304401
- 0.000450002 -
105_LYS GLU gnomAD
chr10:94025 		rs143154682
- 0.00935482 -
107_HIS ASN ClinVar
chr16:90001172 		-
Likely pathogenic - Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
107_HIS ARG gnomAD
chr10:94018 		rs9329307
- 0.012623 -
107_HIS ARG 8.3kJPN
chr10:94018 		rs9329307
- 0.1792 -
108_TYR TER ClinVar
chr20:57598800 		rs560702757
Pathogenic - Congenital hypothyroidism [Human Phenotype Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442]
108_TYR ASP ClinVar
chr6:30691155 		rs2127749078
Likely pathogenic - Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]; Multiple benign circumferential skin creases on limbs 1 [MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610]
110_GLU LYS ClinVar
chr6:30691161 		rs1057518412
Likely pathogenic - not provided [MedGen:CN517202]
110_GLU LYS 8.3kJPN
chr10:94010 		rs541770879
- 0.0001 -
111_GLY GLU gnomAD
chr20:57598808 		rs41303899
- 0.000870858 -
111_GLY VAL 8.3kJPN
chr10:94006 		rs368995010
- 0.1298 -
112_ALA THR gnomAD
chr10:94004 		rs145405488
- 0.000252378 -
112_ALA THR 8.3kJPN
chr10:94004 		rs145405488
- 0.0002 -
113_GLU LYS ClinVar
chr6:30691170 		-
Likely pathogenic - Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
115_MET THR 8.3kJPN
chr10:93994 		rs61839058
- 0.0011 -
116_GLU LYS gnomAD
chr20:57598822 		rs200931731
- 0.000170993 -
117_ALA THR 8.3kJPN
chr19:6496167 		rs1399440240
- 0.0001 -
119_LEU PRO ClinVar
chr6:3225973 		rs397514569
Likely pathogenic - Complex cortical dysplasia with other brain malformations 7|not provided [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573|MedGen:CN517202]
121_VAL ILE 8.3kJPN
chr10:93977 		rs147863681
- 0.0001 -
123_ARG TRP ClinVar
chr6:30691200 		rs772730239
Likely pathogenic - not provided [MedGen:C3661900]
124_LYS THR ClinVar
chr6:3155070 		rs1762604801
Pathogenic - not provided [MedGen:C3661900]
125_GLU LYS ClinVar
chr10:93965 		rs562343372
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
128_SER ASN 8.3kJPN
chr10:93955 		-
- 0.0002 -
131_CYS TRP 8.3kJPN
chr19:6496123 		-
- 0.0001 -
132_LEU PRO gnomAD
chr10:93943 		rs144740103
- 0.001083 -
132_LEU VAL gnomAD
chr20:57598870 		rs202177647
- 0.000445392 -
134_GLY SER ClinVar
chr6:3155041 		rs1064795249
Pathogenic/Likely pathogenic - not provided|Complex cortical dysplasia with other brain malformations 5 [MedGen:CN517202|MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
134_GLY CYS ClinVar
chr10:93938 		rs782492611
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
136_GLN LEU ClinVar
chr6:3155034 		rs2113785613
Likely pathogenic - not provided [MedGen:C3661900]
136_GLN HIS gnomAD
chr10:93930 		rs9329306
- 0.00367499 -
138_VAL ILE 8.3kJPN
chr20:57598888 		rs62639976
- 0.0001 -
143_GLY ALA ClinVar
chr10:93910 		rs1834382153
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
144_GLY SER ClinVar
chr16:90001283 		rs1131691895
Pathogenic/Likely pathogenic - not provided|Complex cortical dysplasia with other brain malformations 1|Brain malformation [MedGen:C3661900|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570|MedGen:C0266449,Orphanet:199633]; Congenital fibrosis of extraocular muscles [Human Phenotype Ontology:HP:0001491,MONDO:MONDO:0007614,MedGen:C1302995,OMIM:PS135700,Orphanet:45358]
144_GLY CYS ClinVar
chr6:30691263 		rs1776430407
Likely pathogenic - not provided [MedGen:CN517202]
144_GLY CYS 8.3kJPN
chr20:57598906 		-
- 0.0001 -
151_THR PRO 8.3kJPN
chr20:57598927 		-
- 0.0004 -
152_LEU PHE ClinVar
chr6:30691287 		rs1581668624
Likely pathogenic - Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
154_LEU ILE 8.3kJPN
chr10:93878 		rs782796368
- 0.0006 -
158_ARG LEU ClinVar
chr19:6496043 		rs587777429
Pathogenic/Likely pathogenic - Hypomyelinating leukodystrophy 6|Inborn genetic diseases [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MeSH:D030342,MedGen:C0950123]
158_ARG HIS 8.3kJPN
chr18:12325255 		rs764937874
- 0.0001 -
167_ASN ASP ClinVar
chr19:6496017 		-
Likely pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
167_ASN LYS 8.3kJPN
chr20:57598977 		-
- 0.0001 -
171_ILE VAL gnomAD
chr10:93827 		rs142619172
- 0.00048972 -
171_VAL ILE gnomAD
chr18:12325293 		rs146684823
- 0.000103385 -
171_ILE VAL 8.3kJPN
chr10:93827 		rs142619172
- 0.011 -
171_VAL ILE 8.3kJPN
chr20:57598987 		rs764400206
- 0.0002 -
172_MET ILE ClinVar
chr6:3225813 		-
Likely pathogenic - not provided [MedGen:C3661900]
174_SER PRO ClinVar
chr6:3225809 		rs137853194
Pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
174_SER LEU ClinVar
chr6:3225808 		rs1554126925
Likely pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
175_PRO LEU ClinVar
chr6:3154917 		rs2113785529
Likely pathogenic - not provided [MedGen:C3661900]
176_LYS ARG 8.3kJPN
chr9:140137191 		-
- 0.0001 -
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 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
178_SER PRO ClinVar
chr6:3225797 		rs1757277674
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
180_THR ARG ClinVar
chr19:6495977 		rs587777468
Pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
180_THR MET ClinVar
chr6:3154902 		rs886039447
Pathogenic/Likely pathogenic - not provided [MedGen:C3661900]
180_THR MET ClinVar
chr16:90001392 		rs747480526
Pathogenic/Likely pathogenic - Complex cortical dysplasia with other brain malformations 1|not provided|Inborn genetic diseases [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
180_THR MET ClinVar
chr19:6495977 		rs587777468
Pathogenic - Hypomyelinating leukodystrophy 6|not provided|Torsion dystonia 4 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MedGen:CN517202|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]
180_THR SER ClinVar
chr6:30691372 		rs1057520046
Likely pathogenic - not provided [MedGen:CN517202]
181_VAL LEU ClinVar
chr19:6495975 		rs1057517986
Pathogenic - not provided [MedGen:CN517202]
181_VAL MET ClinVar
chr10:93797 		rs782262099
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
181_VAL LEU ClinVar
chr16:90001394 		rs2151092804
Likely pathogenic - Abnormal cerebral morphology [Human Phenotype Ontology:HP:0002060,MedGen:C4021762]
181_VAL MET 8.3kJPN
chr10:93797 		rs782262099
- 0.0023 -
182_VAL ALA ClinVar
chr10:93793 		rs1834375618
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
182_VAL ALA ClinVar
chr19:6495971 		rs2145245505
Likely pathogenic - not provided [MedGen:C3661900]
184_PRO SER ClinVar
chr10:93788 		rs1834375493
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
184_PRO SER ClinVar
chr19:6495966 		rs886041008
Likely pathogenic - Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]; Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
186_ASN ASP ClinVar
chr10:93782 		rs782588770
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
186_ASN LYS 8.3kJPN
chr6:3154883 		rs199973851
- 0.0005 -
186_ASN LYS 8.3kJPN
chr6:3225771 		rs1323796901
- 0.0007 -
187_ALA THR gnomAD
chr6:3225770 		rs146544321
- 0.00240633 -
187_ALA VAL gnomAD
chr10:93778 		rs782272071
- 0.000561668 -
187_ALA THR 8.3kJPN
chr6:3154882 		rs76334433
- 0.0119 -
187_ALA THR 8.3kJPN
chr6:3225770 		rs146544321
- 0.0514 -
187_ALA VAL 8.3kJPN
chr10:93778 		rs782272071
- 0.0011 -
192_HIS TYR ClinVar
chr19:6495942 		rs761635539
Pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
194_LEU MET 8.3kJPN
chr20:57599056 		-
- 0.0003 -
195_VAL MET ClinVar
chr16:90001436 		rs2030404834
Pathogenic - Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
195_ILE THR gnomAD
chr20:57599060 		rs141698221
- 0.000155075 -
195_ILE THR 8.3kJPN
chr20:57599060 		rs141698221
- 0.0001 -
196_GLU LYS ClinVar
chr6:3154855 		rs1554122959
Pathogenic/Likely pathogenic - not provided|Complex cortical dysplasia with other brain malformations 5 [MedGen:CN517202|MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
196_GLU ASP 8.3kJPN
chr20:57599064 		rs186106638
- 0.0018 -
199_ASP GLU 8.3kJPN
chr18:12325379 		-
- 0.0001 -
200_GLU ASP ClinVar
chr10:93738 		rs1834373127
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
203_CYS PHE ClinVar
chr6:3225721 		rs201922441
Likely pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
203_SER CYS 8.3kJPN
chr6:3154833 		rs1054331
- 0.0002 -
203_CYS SER 8.3kJPN
chr6:3225721 		rs201922441
- 0.0001 -
203_CYS ARG 8.3kJPN
chr10:93731 		rs782282554
- 0.0001 -
203_CYS SER 8.3kJPN
chr19:6495909 		-
- 0.0001 -
206_ASN ILE ClinVar
chr6:3225712 		rs1757276859
Likely pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
207_GLU LYS ClinVar
chr16:90001472 		rs878853257
Pathogenic - Complex cortical dysplasia with other brain malformations 1|not provided [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570|MedGen:C3661900]
207_GLU ALA ClinVar
chr16:90001473 		rs1057518593
Likely pathogenic - not provided [MedGen:CN517202]
207_GLU LYS ClinVar
chr10:93719 		rs1554738360
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
207_GLU ASP ClinVar
chr6:3154820 		rs2113785454
Pathogenic - not provided [MedGen:C3661900]
210_TYR TER ClinVar
chr20:57599106 		rs2146377060
Pathogenic - Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050]
211_ASP GLU 8.3kJPN
chr9:140137297 		-
- 0.0001 -
212_ILE ASN ClinVar
chr6:3225694 		rs1561826759
Likely pathogenic - not provided [MedGen:C3661900]
212_ILE LYS ClinVar
chr10:93703 		rs1834371028
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
213_CYS TYR ClinVar
chr6:3225691 		-
Likely pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
215_ARG HIS gnomAD
chr20:57599120 		rs62639975
- 0.000262442 -
215_LYS ARG 8.3kJPN
chr10:93694 		rs144539776
- 0.0883 -
215_ARG HIS 8.3kJPN
chr20:57599120 		rs62639975
- 0.0001 -
216_THR ILE 8.3kJPN
chr10:93691 		rs782312790
- 0.0001 -
218_LYS ARG ClinVar
chr6:30691486 		rs1059145
Likely pathogenic - not provided [MedGen:CN517202]
220_THR MET 8.3kJPN
chr20:57599135 		rs539171911
- 0.0001 -
223_THR ILE ClinVar
chr6:30691501 		rs878853162
Pathogenic - Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
224_TYR PHE ClinVar
chr6:30691504 		rs864321677
Pathogenic - Multiple benign circumferential skin creases on limbs 1 [MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610]
225_GLY ARG 8.3kJPN
chr18:12325455 		rs776501959
- 0.0013 -
226_ASP TYR ClinVar
chr6:30691509 		-
Likely pathogenic - Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
227_LEU PHE ClinVar
chr6:3225650 		rs2113819161
Likely pathogenic - not provided [MedGen:C3661900]
230_LEU PRO ClinVar
chr6:3225640 		rs137853195
Pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
230_LEU VAL ClinVar
chr6:30691521 		rs1057524718
Likely pathogenic - not provided [MedGen:CN517202]
230_LEU ILE ClinVar
chr6:30691521 		rs1057524718
Likely pathogenic - not provided [MedGen:C3661900]
230_LEU PRO ClinVar
chr16:90001542 		-
Pathogenic - not provided [MedGen:CN517202]
231_VAL ALA ClinVar
chr10:93646 		rs869025271
Pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
231_VAL ALA ClinVar
chr19:6495824 		rs1568409626
Likely pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
232_SER LEU ClinVar
chr16:90001548 		rs886041459
Pathogenic/Likely pathogenic - not provided|Complex cortical dysplasia with other brain malformations 1 [MedGen:C3661900|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
232_SER LEU ClinVar
chr6:3154746 		-
Pathogenic/Likely pathogenic - not provided|Complex cortical dysplasia with other brain malformations 5 [MedGen:C3661900|MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
235_MET VAL gnomAD
chr10:93635 		rs200242637
- 0.0125805 -
235_MET VAL 8.3kJPN
chr10:93635 		rs200242637
- 0.0823 -
237_GLY ARG gnomAD
chr6:3225620 		rs587784500
- 0.00506778 -
239_THR PRO gnomAD
chr9:140137379 		rs754631743
- 0.000439224 -
240_THR MET ClinVar
chr10:93619 		rs1057520306
Pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
241_CYS PHE ClinVar
chr6:3225607 		rs878853284
Pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
241_SER PHE ClinVar
chr16:90001575 		rs1555625589
Likely pathogenic - not provided [MedGen:CN517202]
243_ARG HIS ClinVar
chr6:3225601 		rs1064794314
Likely pathogenic - not provided [MedGen:CN517202]
243_ARG HIS ClinVar
chr10:93610 		rs782631950
Pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
244_PHE LEU ClinVar
chr6:3154711 		rs1554122948
Likely pathogenic - not provided [MedGen:CN517202]
244_PHE LEU ClinVar
chr20:57599208 		rs890185415
Likely pathogenic - Macrothrombocytopenia, isolated, 1, autosomal dominant [MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957]
245_PRO LEU ClinVar
chr10:93604 		rs1834366416
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
245_PRO ARG ClinVar
chr16:90001587 		rs587784506
Likely pathogenic - not provided [MedGen:C3661900]
246_GLY VAL ClinVar
chr19:6495779 		rs886041010
Pathogenic - Hypomyelinating leukodystrophy 6|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MedGen:CN517202]
246_GLY SER ClinVar
chr19:6495780 		rs886041007
Pathogenic/Likely pathogenic - Hypomyelinating leukodystrophy 6|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MedGen:C3661900]
246_GLY ALA ClinVar
chr6:3154704 		rs1057521918
Likely pathogenic - not provided [MedGen:CN517202]
246_GLY ARG ClinVar
chr19:6495780 		rs886041007
Pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
246_GLY SER ClinVar
chr6:3225593 		rs2113819124
Pathogenic - not provided [MedGen:C3661900]
247_GLN HIS ClinVar
chr10:93597 		rs1588270347
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
248_LEU MET ClinVar
chr19:6495774 		rs2145244734
Likely pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
248_LEU PRO ClinVar
chr19:6495773 		-
Pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
248_LEU ARG 8.3kJPN
chr20:57599219 		-
- 0.0002 -
249_ASN LYS ClinVar
chr6:3154694 		rs886037663
Pathogenic - Complex cortical dysplasia with other brain malformations 5|Congenital cerebellar hypoplasia [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246]
250_ALA VAL 8.3kJPN
chr6:3154692 		rs2808001
- 0.0176 -
250_ALA VAL 8.3kJPN
chr6:3225580 		rs777598117
- 0.0323 -
251_ASP ASN ClinVar
chr19:6495765 		rs483352809
Pathogenic/Likely pathogenic - Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]; Hypomyelinating leukodystrophy 6|Abnormality of the nervous system|Hypomyelinating leukodystrophy 6|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MedGen:C3661900]
251_ASP ASN 8.3kJPN
chr20:57599227 		-
- 0.0001 -
253_ARG SER ClinVar
chr6:3225572 		rs756024033
Likely pathogenic - not provided [MedGen:CN517202]
254_LYS ARG ClinVar
chr19:6495755 		-
Pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
254_LYS ASN gnomAD
chr9:140137426 		rs772154263
- 0.000230521 -
254_LYS ASN gnomAD
chr10:93576 		rs782788203
- 0.00445922 -
257_VAL ILE ClinVar
chr19:6495747 		rs767399782
Pathogenic/Likely pathogenic - Hypomyelinating leukodystrophy 6|not provided|Cerebral palsy|Inborn genetic diseases|Microcephaly [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MedGen:C3661900|Human Phenotype Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563]
257_VAL ILE ClinVar
chr16:90001622 		rs1057517908
Pathogenic/Likely pathogenic - not provided|TUBB3-Related Disorder|Complex cortical dysplasia with other brain malformations 1 [MedGen:C3661900||MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
257_VAL MET ClinVar
chr10:93569 		rs782269374
Likely pathogenic - Inherited oocyte maturation defect [MONDO:MONDO:0014769,MedGen:CN238505,OMIM:PS615774]
258_ASN SER ClinVar
chr6:3154668 		-
Pathogenic - not provided [MedGen:C3661900]
261_PRO LEU ClinVar
chr6:3225547 		-
Pathogenic - Complex cortical dysplasia with other brain malformations 7|Congenital bilateral perisylvian syndrome [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573|Human Phenotype Ontology:HP:0032407,MONDO:MONDO:0020340,MedGen:C1845668,Orphanet:98889]
262_PHE SER 8.3kJPN
chr20:57599261 		rs1057517996
- 0.0013 -
264_ARG CYS ClinVar
chr16:90001643 		rs267607162
Pathogenic - Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|not provided [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:C3661900]
264_ARG HIS ClinVar
chr16:90001644 		rs864321716
Pathogenic/Likely pathogenic - Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|not provided|TUBB3-related tubulinopathy|TUBB3-related disorders [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:C3661900|MONDO:MONDO:0100154,MedGen:CN322634|]
264_ARG GLN ClinVar
chr10:93547 		rs869025610
Pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
264_ARG HIS ClinVar
chr19:6495725 		rs886039470
Pathogenic - not provided|Hypomyelinating leukodystrophy 6|Inborn genetic diseases [MedGen:C3661900|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MeSH:D030342,MedGen:C0950123]
264_ARG HIS ClinVar
chr6:3154650 		-
Pathogenic - not provided [MedGen:CN517202]
264_ARG TRP 8.3kJPN
chr10:93548 		rs782486119
- 0.011 -
267_PHE LEU ClinVar
chr6:3225530 		rs137853196
Pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
268_PHE ILE ClinVar
chr19:6495714 		rs2145244590
Likely pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
268_PHE CYS 8.3kJPN
chr10:93535 		-
- 0.0001 -
271_GLY ASP ClinVar
chr20:57599288 		-
Pathogenic - Macrothrombocytopenia, isolated, 1, autosomal dominant [MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957]
272_PHE LEU 8.3kJPN
chr20:57599292 		rs1389479127
- 0.0001 -
273_ALA THR ClinVar
chr19:6495699 		rs587777074
Pathogenic - Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]
273_ALA SER 8.3kJPN
chr9:140137481 		-
- 0.0001 -
275_LEU VAL ClinVar
chr16:90001676 		-
Likely pathogenic - See cases [-]
276_THR MET gnomAD
chr20:57599303 		rs35565630
- 0.0177679 -
276_THR ILE 8.3kJPN
chr16:90001680 		-
- 0.0001 -
278_GLN ARG gnomAD
chr20:57599309 		rs144046758
- 0.00106672 -
278_ARG GLN 8.3kJPN
chr10:93505 		rs147114528
- 0.0481 -
279_GLY ALA gnomAD
chr19:6495680 		rs778225925
- 0.000120441 -
280_SER ARG ClinVar
chr16:90001693 		rs1085308026
Likely pathogenic - not provided [MedGen:CN517202]
284_ARG PRO ClinVar
chr16:90001704 		rs1064795231
Likely pathogenic - not provided [MedGen:CN517202]
284_ARG GLN ClinVar
chr16:90001704 		rs1064795231
Likely pathogenic - not provided [MedGen:C3661900]
284_ARG TRP 8.3kJPN
chr10:93488 		rs371080326
- 0.0044 -
287_THR LYS ClinVar
chr19:6495656 		rs552079378
Likely pathogenic - Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]
289_PRO SER ClinVar
chr6:30691698 		-
Pathogenic - not provided [MedGen:C3661900]
290_GLU LYS ClinVar
chr16:90001721 		rs1057521924
Pathogenic/Likely pathogenic - not provided|Complex cortical dysplasia with other brain malformations 1|Abnormal cerebral morphology [MedGen:C3661900|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570|Human Phenotype Ontology:HP:0002060,MedGen:C4021762]
290_GLU ALA ClinVar
chr16:90001722 		rs2030417656
Likely pathogenic - Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
292_THR ILE 8.3kJPN
chr20:57599351 		rs762759390
- 0.0016 -
293_GLN LYS ClinVar
chr6:3225452 		rs1554126886
Likely pathogenic - Complex cortical dysplasia with other brain malformations 7|Lissencephaly [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573|Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471]
293_GLN HIS 8.3kJPN
chr19:6495637 		-
- 0.0001 -
299_ARG CYS 8.3kJPN
chr20:57599371 		rs752263582
- 0.0001 -
300_ASN SER ClinVar
chr10:93439 		rs1834359656
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
300_ASN ILE ClinVar
chr6:3225430 		rs2113819025
Likely pathogenic - not provided [MedGen:C3661900]
301_MET VAL ClinVar
chr6:30691734 		rs587777355
Pathogenic - Complex cortical dysplasia with other brain malformations 6|not provided|Inborn genetic diseases [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771|MedGen:CN517202|MeSH:D030342,MedGen:C0950123]
301_MET ILE ClinVar
chr6:30691736 		rs2127749712
Likely pathogenic - not provided [MedGen:C3661900]
302_MET ILE ClinVar
chr10:93432 		rs869025612
Pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
304_ALA THR ClinVar
chr16:90001763 		rs267607163
Pathogenic - Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|not provided [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:C3661900]
304_ALA VAL ClinVar
chr16:90001764 		rs878853258
Pathogenic - Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
304_ALA THR ClinVar
chr6:3225419 		rs1581525766
Likely pathogenic - not provided [MedGen:C3661900]
304_ALA SER ClinVar
chr16:90001763 		-
Pathogenic - not provided [MedGen:C3661900]
305_CYS TYR ClinVar
chr6:3225415 		rs2113819019
Likely pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
305_CYS ARG 8.3kJPN
chr10:93425 		rs41304577
- 0.0169 -
305_CYS TYR 8.3kJPN
chr18:12325696 		-
- 0.0001 -
306_ASP ALA 8.3kJPN
chr6:30691750 		rs747201319
- 0.0016 -
306_ASP ALA 8.3kJPN
chr9:140137581 		rs759883826
- 0.0021 -
308_ARG PRO ClinVar
chr6:30691756 		rs2127749740
Likely pathogenic - Complex cortical dysplasia with other brain malformations 6|not provided [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771|MedGen:C3661900]
308_ARG CYS gnomAD
chr20:57599398 		rs192115302
- 0.000386171 -
308_ARG HIS 8.3kJPN
chr20:57599399 		rs772479017
- 0.0001 -
309_ARG CYS gnomAD
chr20:57599401 		rs62639974
- 0.00419874 -
309_ARG HIS gnomAD
chr20:57599402 		rs6070697
- 0.174998 -
309_ARG HIS 8.3kJPN
chr20:57599402 		rs6070697
- 0.1184 -
310_GLY SER ClinVar
chr10:93410 		rs782575307
Pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
311_ARG CYS 8.3kJPN
chr10:93407 		rs782628556
- 0.0233 -
311_ARG CYS 8.3kJPN
chr20:57599407 		rs768884799
- 0.0001 -
312_TYR CYS ClinVar
chr16:90001788 		rs2151092964
Likely pathogenic - Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
314_THR ARG ClinVar
chr6:3154500 		-
Likely pathogenic - not provided [MedGen:CN517202]
314_THR ALA gnomAD
chr18:12325722 		rs138139116
- 0.00130841 -
315_ALA VAL 8.3kJPN
chr10:93394 		rs199826048
- 0.0003 -
316_ALA VAL ClinVar
chr19:6495569 		rs886041013
Pathogenic/Likely pathogenic - Hypomyelinating leukodystrophy 6|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MedGen:C3661900]
316_ALA SER ClinVar
chr10:93392 		rs781859520
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
316_ALA ASP ClinVar
chr6:3154494 		rs2113785178
Pathogenic - not provided [MedGen:C3661900]
317_CYS TER ClinVar
chr20:57599427 		rs1601239459
Likely pathogenic - Thrombocytopenia [Human Phenotype Ontology:HP:0001873,Human Phenotype Ontology:HP:0001906,Human Phenotype Ontology:HP:0004838,Human Phenotype Ontology:HP:0008175,Human Phenotype Ontology:HP:0008268,Human Phenotype Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034]
320_ARG TRP ClinVar
chr20:57599434 		rs121918555
Pathogenic/Likely pathogenic - Macrothrombocytopenia, isolated, 1, autosomal dominant|Macrothrombocytopenia|not provided [MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957|Human Phenotype Ontology:HP:0040185,MedGen:C2751260|MedGen:C3661900]
320_ARG GLN ClinVar
chr6:3225370 		rs2113819002
Likely pathogenic - not provided [MedGen:C3661900]
320_ARG TRP 8.3kJPN
chr20:57599434 		rs121918555
- 0.0002 -
320_ARG GLN 8.3kJPN
chr20:57599435 		rs370105172
- 0.0004 -
322_ARG HIS 8.3kJPN
chr9:140137629 		rs868154988
- 0.0001 -
322_LYS ARG 8.3kJPN
chr20:57599441 		-
- 0.0004 -
323_MET VAL ClinVar
chr6:30691800 		rs2127749786
Pathogenic - Abnormal brain morphology|Complex cortical dysplasia with other brain malformations 6 [Human Phenotype Ontology:HP:0012443,MedGen:C4021085|MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
324_SER PHE ClinVar
chr6:3225358 		rs587784502
Likely pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
325_MET VAL ClinVar
chr16:90001826 		rs878853256
Pathogenic - Complex cortical dysplasia with other brain malformations 1|not provided [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570|MedGen:C3661900]
325_MET LEU ClinVar
chr6:3154468 		rs2113785156
Likely pathogenic - not provided|Complex cortical dysplasia with other brain malformations 5 [MedGen:C3661900|MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
325_MET THR ClinVar
chr6:30691807 		-
Likely pathogenic - not provided [MedGen:C3661900]
326_LYS ASN ClinVar
chr6:3225351 		rs2113818998
Pathogenic - not provided [MedGen:C3661900]
329_ASP ASN ClinVar
chr6:30691818 		rs1776459285
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
339_ASN TYR 8.3kJPN
chr6:3154426 		-
- 0.0001 -
342_TYR CYS 8.3kJPN
chr6:30691858 		rs1392325125
- 0.0001 -
343_PHE LEU ClinVar
chr19:6495489 		rs1914104455
Likely pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
344_VAL MET ClinVar
chr16:90001883 		rs1210717639
Likely pathogenic - Spastic ataxia [Human Phenotype Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226]
347_ILE PHE ClinVar
chr6:3154402 		rs797046074
Pathogenic/Likely pathogenic - Complex cortical dysplasia with other brain malformations 5|TUBB2A-related tubulinopathy [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763|MONDO:MONDO:0700044,MedGen:CN322834]
351_VAL ILE gnomAD
chr20:57599527 		rs115253190
- 0.00181744 -
351_VAL ILE 8.3kJPN
chr10:93287 		rs572455524
- 0.0044 -
352_LYS THR ClinVar
chr19:6495461 		rs1914101190
Likely pathogenic - not provided [MedGen:C3661900]
353_THR MET ClinVar
chr6:3154383 		-
Pathogenic - not provided [MedGen:CN517202]
354_ALA SER ClinVar
chr19:6495456 		rs886041015
Likely pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
355_VAL ILE ClinVar
chr6:30691896 		rs587777356
Pathogenic - Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
356_CYS TRP ClinVar
chr19:6495448 		rs748787734
Likely pathogenic - Hypomyelinating leukodystrophy 6|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MedGen:CN517202]
357_ASP GLU ClinVar
chr19:6495445 		rs1599405952
Likely pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
359_PRO LEU ClinVar
chr6:3225253 		rs1581525728
Likely pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
359_PRO LEU ClinVar
chr6:3154365 		rs2113785083
Pathogenic - not provided|Abnormal cerebral morphology [MedGen:C3661900|Human Phenotype Ontology:HP:0002060,MedGen:C4021762]
359_PRO LEU 8.3kJPN
chr20:57599552 		rs200564118
- 0.0001 -
360_PRO LEU ClinVar
chr10:93259 		rs1588269791
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
360_PRO LEU ClinVar
chr6:3154362 		rs1762593142
Likely pathogenic - Complex cortical dysplasia with other brain malformations 5 [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
360_PRO THR ClinVar
chr6:3154363 		rs2113785077
Likely pathogenic - Complex cortical dysplasia with other brain malformations 5 [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
369_ARG TRP gnomAD
chr10:93257 		rs147880041
- 0.000555223 -
369_ARG TRP gnomAD
chr20:57599557 		rs140943896
- 0.00658266 -
371_LEU ILE ClinVar
chr16:90001940 		rs1064794940
Likely pathogenic - not provided [MedGen:CN517202]
371_LEU PHE ClinVar
chr6:30691920 		rs2127749978
Likely pathogenic - Ventriculomegaly [Human Phenotype Ontology:HP:0002119,Human Phenotype Ontology:HP:0002447,Human Phenotype Ontology:HP:0005691,Human Phenotype Ontology:HP:0007071,MedGen:C3278923]; Hypoplasia of the corpus callosum [Human Phenotype Ontology:HP:0002079,Human Phenotype Ontology:HP:0002319,Human Phenotype Ontology:HP:0007026,MedGen:C0344482]
373_MET THR ClinVar
chr10:93244 		rs869025611
Pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
373_MET ARG ClinVar
chr6:3154347 		-
Likely pathogenic - not provided [MedGen:C3661900]
377_PHE LEU ClinVar
chr19:6495411 		rs886041018
Likely pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
379_GLY TRP 8.3kJPN
chr10:93227 		-
- 0.0001 -
387_LEU PRO ClinVar
chr10:93202 		rs1834351540
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
388_PHE LEU 8.3kJPN
chr18:12325920 		-
- 0.0001 -
390_ARG LEU ClinVar
chr6:3225184 		rs587784498
Likely pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
390_ARG CYS ClinVar
chr16:90001997 		rs864321717
Pathogenic - Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|not provided|Inborn genetic diseases|Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
390_ARG HIS ClinVar
chr10:93193 		rs1554738022
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
390_ARG CYS ClinVar
chr6:3225185 		rs1757271243
Pathogenic - not provided|Complex cortical dysplasia with other brain malformations 7 [MedGen:C3661900|MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
390_ARG PRO ClinVar
chr16:90001998 		rs777149755
Likely pathogenic - Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
390_ARG SER ClinVar
chr16:90001997 		-
Likely pathogenic - Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
394_GLN HIS 8.3kJPN
chr6:30691991 		-
- 0.0001 -
398_MET ILE ClinVar
chr19:6495346 		rs797045074
Pathogenic/Likely pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
398_MET VAL ClinVar
chr16:90002021 		rs878853279
Pathogenic/Likely pathogenic - Complex cortical dysplasia with other brain malformations 1|not provided [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570|MedGen:C3661900]
398_MET ILE ClinVar
chr19:6495346 		rs797045074
Pathogenic - Hypomyelinating leukodystrophy 6|not provided|6 conditions [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MedGen:C3661900|6 conditions]
398_MET VAL ClinVar
chr19:6495348 		rs886041019
Likely pathogenic - Hypomyelinating leukodystrophy 6|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MedGen:C3661900]
398_MET THR ClinVar
chr10:93169 		rs1834350042
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
398_MET THR ClinVar
chr16:90002022 		rs2030427823
Likely pathogenic - Lissencephaly [Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471]
398_MET LEU ClinVar
chr6:3225161 		rs2113818913
Likely pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
400_ARG TRP 8.3kJPN
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 - Hypomyelinating leukodystrophy 6|not provided|Torsion dystonia 4 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MedGen:C3661900|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]; Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
401_ARG HIS ClinVar
chr9:140137842 		rs1554786803
Pathogenic/Likely pathogenic - Leber congenital amaurosis with early-onset deafness|not provided [MONDO:MONDO:0060650,MedGen:C4693498,OMIM:617879|MedGen:CN517202]
401_ARG HIS ClinVar
chr6:3225151 		rs1581525683
Pathogenic/Likely pathogenic - not provided|Complex cortical dysplasia with other brain malformations 7 [MedGen:C3661900|MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
401_ARG HIS ClinVar
chr10:93160 		rs1834349844
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
401_ARG HIS ClinVar
chr16:90002031 		-
Likely pathogenic - not provided [MedGen:C3661900]
401_ARG CYS ClinVar
chr6:3225152 		-
Likely pathogenic - not provided [MedGen:CN517202]
403_ALA VAL ClinVar
chr6:3154257 		rs1581496351
Likely pathogenic - Complex cortical dysplasia with other brain malformations 5 [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
403_ALA ASP ClinVar
chr10:93154 		rs1834349710
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
403_ALA VAL ClinVar
chr19:6495332 		rs1914085591
Likely pathogenic - not provided [MedGen:C3661900]
404_PHE SER ClinVar
chr18:12325969 		rs1555669248
Pathogenic - Facial palsy, congenital, with ptosis and velopharyngeal dysfunction [MONDO:MONDO:0060589,MedGen:C4540277,OMIM:617732]
404_PHE SER ClinVar
chr19:6495329 		rs886041022
Likely pathogenic - Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]; Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]
406_HIS ARG 8.3kJPN
chr10:93145 		-
- 0.0001 -
407_TRP ARG ClinVar
chr6:3225134 		rs1057520787
Likely pathogenic - not provided [MedGen:CN517202]
407_TRP GLY ClinVar
chr10:93143 		rs1834349280
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
411_GLU LYS ClinVar
chr6:30692040 		rs587777357
Pathogenic - Complex cortical dysplasia with other brain malformations 6|Inborn genetic diseases|Multiple benign circumferential skin creases on limbs 1 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610]
411_GLU GLN 8.3kJPN
chr6:3225122 		-
- 0.0001 -
413_MET ILE ClinVar
chr16:90002068 		rs1131691632
Likely pathogenic - not provided [MedGen:CN517202]
414_ASP GLU 8.3kJPN
chr10:93120 		-
- 0.0009 -
415_GLU ALA 8.3kJPN
chr6:3225109 		-
- 0.0001 -
420_GLU LYS ClinVar
chr16:90002087 		rs267607165
Pathogenic - Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|Complex cortical dysplasia with other brain malformations 1|TUBB3-Releated Disorders|not provided|TUBB3-related condition [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570||MedGen:C3661900|]
420_GLU LYS ClinVar
chr19:6495282 		rs587777428
Pathogenic/Likely pathogenic - Hypomyelinating leukodystrophy 6|Torsion dystonia 4 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]; Hypomyelinating leukodystrophy 6|Torsion dystonia 4|Cerebral palsy|not provided|Global developmental delay [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805|Human Phenotype Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789|MedGen:C3661900|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874]
420_GLU ASP ClinVar
chr6:30692069 		rs1085307486
Likely pathogenic - not provided [MedGen:CN517202]
420_GLU LYS ClinVar
chr6:3154207 		rs1762591034
Likely pathogenic - not provided [MedGen:CN517202]
420_GLU LYS ClinVar
chr6:3225095 		rs2113818881
Pathogenic/Likely pathogenic - not provided [MedGen:C3661900]
420_GLU LYS 8.3kJPN
chr10:93104 		-
- 0.0007 -
420_GLU LYS 8.3kJPN
chr18:12326016 		-
- 0.0001 -
424_ASN HIS ClinVar
chr6:3154195 		rs1057518044
Likely pathogenic - not provided [MedGen:CN517202]
424_ASN LYS ClinVar
chr10:93090 		rs1834347552
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
424_ASN TYR ClinVar
chr19:6495270 		rs1914081211
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
426_ASN SER ClinVar
chr6:3154188 		rs1561805651
Likely pathogenic - not provided [MedGen:C3661900]
427_ASP HIS ClinVar
chr16:90002108 		rs267607164
Pathogenic - Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638]
427_ASP ASN ClinVar
chr16:90002108 		rs267607164
Pathogenic - Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|not provided [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:C3661900]
427_ASP ASN ClinVar
chr6:3225074 		rs397514567
Pathogenic - Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
427_ASP ASN ClinVar
chr10:93083 		rs869025272
Pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
427_ASP ASN ClinVar
chr6:3154186 		-
Pathogenic - not provided [MedGen:C3661900]
431_GLU LYS ClinVar
chr6:3225062 		rs398122369
Pathogenic/Likely pathogenic - Complex cortical dysplasia with other brain malformations 7|Lissencephaly [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573|Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471]
431_GLU LYS ClinVar
chr6:30692100 		-
Pathogenic - Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
434_GLN ARG ClinVar
chr10:93061 		rs1834346707
Likely pathogenic - Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
434_GLN TER 8.3kJPN
chr10:93062 		rs1356357815
- 0.0001 -
439_THR PRO 8.3kJPN
chr6:3225038 		-
- 0.0002 -
441_GLU LYS gnomAD
chr10:93041 		rs540119672
- 0.000183435 -
441_GLU LYS 8.3kJPN
chr16:90002150 		rs964422136
- 0.0001 -
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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.