PDB ID 1HLU     CHAIN A
Protein name BETA-ACTIN
Uniprot Accession P60712
The number of similar proteins 159
The number of binding states 44
The number of binding partners 31

Molecule viewer

#binding
partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   DDDIAALVVD   NGSGMCKAGF   AGDDAPRAVF   PSIVGRPRHQ   GVMVGMGQKD   50
51   SYVGDEAQSK   RGILTLKYPI   EXGIVTNWDD   MEKIWHHTFY   NELRVAPEEH   100
101   PVLLTEAPLN   PKANREKMTQ   IMFETFNTPA   MYVAIQAVLS   LYASGRTTGI   150
151   VMDSGDGVTH   TVPIYEGYAL   PHAILRLDLA   GRDLTDYLMK   ILTERGYSFT   200
201   TTAEREIVRD   IKEKLCYVAL   DFEQEMATAA   SSSSLEKSYE   LPDGQVITIG   250
251   NERFRCPEAL   FQPSFLGMES   CGIHETTFNS   IMKCDVDIRK   DLYANTVLSG   300
301   GTTMYPGIAD   RMQKEITALA   PSTMKIKIIA   PPERKYSVWI   GGSILASLST   350
351   FQQMWISKQE   YDESGPSIVH   RKCF       400

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(4.7kJPN)
Disease name
2_ASP HIS ClinVar
chr15:35087000
rs730880408
Likely pathogenic - not provided [MedGen:CN517202]
2_ASP ASN 4.7kJPN
chr2:132021132
-
- 0.0001 -
4_GLU LYS ClinVar
chr1:229568847
rs367543048
Pathogenic - Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]; Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
6_ALA THR 4.7kJPN
chr2:130832929
rs373944612
- 0.0001 -
6_ALA THR 4.7kJPN
chr2:131414338
rs201265731
- 0.2695 -
7_ALA THR ClinVar
chr7:5569270
-
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
10_CYS TER ClinVar
chr1:229568827
-
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
11_ASP GLU 4.7kJPN
chr2:132021161
rs772893062
- 0.0009 -
12_ASN ASP ClinVar
chr7:5569255
rs281875331
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
12_ASN HIS ClinVar
chr7:5569255
rs281875331
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
13_GLY SER 4.7kJPN
chr2:131414359
rs750203790
- 0.0001 -
13_GLY VAL 4.7kJPN
chr2:131414360
-
- 0.0001 -
15_GLY ARG ClinVar
chr1:229568814
rs121909521
Pathogenic - Myopathy, actin, congenital, with excess of thin myofilaments [MedGen:C1834339]
15_GLY ARG ClinVar
chr17:79479338
rs1057518086
Likely pathogenic - not provided [MedGen:CN517202]
15_GLY ALA 4.7kJPN
chr2:132021172
-
- 0.0001 -
17_CYS TRP 4.7kJPN
chr2:130832894
rs752127722
- 0.0006 -
17_CYS TRP 4.7kJPN
chr2:132021179
-
- 0.0002 -
21_PHE LEU ClinVar
chr15:35086943
rs193922681
Likely pathogenic - Primary familial hypertrophic cardiomyopathy [MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005]
21_PHE LEU 4.7kJPN
chr2:130832882
-
- 0.0001 -
22_ALA THR ClinVar
chr7:5569225
rs587780273
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
22_ALA VAL 4.7kJPN
chr2:130832880
rs550448684
- 0.0045 -
22_ALA VAL 4.7kJPN
chr2:131414387
rs770279792
- 0.0012 -
22_ALA THR 4.7kJPN
chr2:132021192
-
- 0.0001 -
24_ASP ASN 4.7kJPN
chr2:131414392
rs572289826
- 0.0002 -
25_ASP VAL 4.7kJPN
chr2:130832871
-
- 0.0001 -
25_ASP GLU 4.7kJPN
chr5:56778457
-
- 0.0001 -
26_ALA ASP 4.7kJPN
chr2:131221440
rs777332284
- 0.0001 -
28_ARG SER 4.7kJPN
chr1:229568773
-
- 0.0001 -
28_ARG GLN 4.7kJPN
chr2:130832862
rs755975114
- 0.0001 -
28_ARG TRP 4.7kJPN
chr2:131414404
rs201522325
- 0.0001 -
28_ARG GLN 4.7kJPN
chr2:132021211
rs1443877295
- 0.0001 -
32_PRO ALA 4.7kJPN
chr2:74128535
-
- 0.0001 -
35_VAL LEU ClinVar
chr1:229568754
rs1553255521
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
35_VAL MET 4.7kJPN
chr2:131414425
rs761434672
- 0.0001 -
37_ARG CYS ClinVar
chr10:90708573
rs112901682
Pathogenic/Likely pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]; not provided [MedGen:CN517202]
37_ARG HIS ClinVar
chr2:74128551
rs869312168
Pathogenic - Chronic intestinal pseudoobstruction [MedGen:C0238062,Orphanet:ORPHA2978]
37_CYS ARG 4.7kJPN
chr2:131414431
rs71221348
- 0.2495 -
37_ARG HIS 4.7kJPN
chr5:56778422
rs765705222
- 0.0001 -
38_PRO LEU ClinVar
chr7:5569176
rs1554329646
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
39_ARG CYS ClinVar
chr2:74128556
rs587777385
Pathogenic/Likely pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]; not provided [MedGen:CN517202]
40_HIS TYR ClinVar
chr17:79479263
rs1057518673
Likely pathogenic - Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]
40_GLN HIS 4.7kJPN
chr2:131221397
rs539655972
- 0.005 -
40_GLN HIS 4.7kJPN
chr2:131414442
rs542301166
- 0.0015 -
40_HIS GLN 4.7kJPN
chr5:56778412
-
- 0.0001 -
41_GLN GLU 4.7kJPN
chr2:131414443
rs1394024885
- 0.0001 -
42_GLY CYS ClinVar
chr1:229568627
rs1131691941
Likely pathogenic - not provided [MedGen:CN517202]
42_GLY SER ClinVar
chr7:5569031
-
Likely pathogenic - not provided [MedGen:CN517202]
43_VAL PHE ClinVar
chr1:229568624
rs398123562
Pathogenic/Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
43_VAL MET ClinVar
chr7:5569028
rs886041267
Likely pathogenic - not provided [MedGen:CN517202]
43_MET ILE 4.7kJPN
chr2:131414451
rs541398584
- 0.0001 -
44_MET THR ClinVar
chr2:74129494
rs864309490
Pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
44_MET LYS ClinVar
chr17:79479161
rs886041280
Likely pathogenic - not provided [MedGen:CN517202]
44_MET THR ClinVar
chr1:229568620
rs1057521120
Likely pathogenic - not provided [MedGen:CN517202]
44_MET ARG ClinVar
chr10:90707136
rs1554841843
Likely pathogenic - not provided [MedGen:CN517202]
44_MET ILE 4.7kJPN
chr2:130832813
rs1160949599
- 0.0008 -
44_MET VAL 4.7kJPN
chr2:130832815
rs747907032
- 0.0006 -
44_MET ILE 4.7kJPN
chr2:131221385
rs550645367
- 0.0056 -
44_MET ILE 4.7kJPN
chr2:131414454
rs1173838414
- 0.0026 -
45_GLY GLU 4.7kJPN
chr2:131221383
rs535405991
- 0.0049 -
45_GLY GLU 4.7kJPN
chr2:131414456
rs747737493
- 0.0015 -
46_GLY ASP ClinVar
chr1:229568614
rs367543049
Pathogenic - Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]
46_GLY SER ClinVar
chr1:229568615
rs794727488
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]; not provided [MedGen:CN517202]
47_MET VAL ClinVar
chr10:90707128
rs397515325
Pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]
47_MET THR ClinVar
chr10:90707127
rs869025352
Likely pathogenic - Cardiovascular phenotype [MedGen:CN230736]
47_MET ARG ClinVar
chr1:229568611
rs1553255506
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
49_GLN HIS 4.7kJPN
chr2:132021275
-
- 0.0002 -
51_GLU TER 4.7kJPN
chr2:131414473
rs767259354
- 0.0003 -
52_CYS SER 4.7kJPN
chr5:56778378
-
- 0.0001 -
52_SER CYS 4.7kJPN
chr17:79479137
-
- 0.0001 -
52_SER THR 4.7kJPN
chr17:79479138
-
- 0.0001 -
54_VAL ILE 4.7kJPN
chr15:35085734
rs944740404
- 0.0001 -
55_GLY GLU 4.7kJPN
chr2:74129527
-
- 0.0001 -
56_ASP ASN ClinVar
chr1:229568585
rs1085308014
Likely pathogenic - not provided [MedGen:CN517202]
60_SER GLY 4.7kJPN
chr15:35085716
-
- 0.0001 -
62_ARG GLY ClinVar
chr2:74129547
rs864309491
Pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
62_ARG SER 4.7kJPN
chr17:79479108
-
- 0.0001 -
64_ILE ASN ClinVar
chr1:229568560
rs1553255502
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
65_LEU VAL ClinVar
chr7:5568962
rs281875332
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
65_LEU PHE ClinVar
chr7:5568962
rs281875332
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
66_THR ASN 4.7kJPN
chr2:131414519
-
- 0.0001 -
70_PRO LEU ClinVar
chr7:5568946
rs587779769
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
71_ILE VAL ClinVar
chr1:229568540
rs1131691728
Pathogenic - not provided [MedGen:CN517202]
71_ILE SER ClinVar
chr1:229568539
rs1553255501
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
72_GLU GLY ClinVar
chr7:5568940
rs1131691341
Likely pathogenic - not provided [MedGen:CN517202]
73_HIS ASP ClinVar
chr7:5568938
rs786205585
Likely pathogenic - not provided [MedGen:CN517202]
73_HIS TYR ClinVar
chr7:5568938
rs786205585
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
74_GLY SER ClinVar
chr7:5568935
rs587779770
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
74_GLY SER ClinVar
chr10:90707047
rs1064793016
Likely pathogenic - not provided [MedGen:CN517202]
74_GLY ARG 4.7kJPN
chr5:56778312
-
- 0.0001 -
75_ILE THR ClinVar
chr7:5568931
rs587779771
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
79_TRP TER ClinVar
chr1:229568514
rs886039302
Likely pathogenic - not provided [MedGen:CN517202]
80_ASP GLU ClinVar
chr10:90707027
rs1254836237
Likely pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]
85_ILE VAL 4.7kJPN
chr15:35085641
-
- 0.0001 -
86_TRP CYS ClinVar
chr7:5568897
rs1554329554
Likely pathogenic - not provided [MedGen:CN517202]
86_TRP SER 4.7kJPN
chr2:131221260
rs563841880
- 0.0056 -
86_TRP SER 4.7kJPN
chr2:131414579
-
- 0.0006 -
87_HIS ASP ClinVar
chr7:5568896
rs1554329552
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
87_HIS GLN 4.7kJPN
chr2:130832684
rs746928594
- 0.0001 -
89_THR ILE ClinVar
chr17:79479026
rs28999111
Pathogenic - Deafness, autosomal dominant 20 [MedGen:C1858172,OMIM:604717]
92_ASN SER ClinVar
chr15:35085619
rs767734253
Likely pathogenic - Familial hypertrophic cardiomyopathy 11 [MedGen:C2677506,OMIM:612098]
92_ASN LYS 4.7kJPN
chr2:130832669
rs538524883
- 0.0001 -
93_GLU LYS ClinVar
chr17:79479015
-
Likely pathogenic - not provided [MedGen:CN517202]
93_GLU LYS 4.7kJPN
chr2:130832668
rs201364219
- 0.0062 -
94_LEU PRO ClinVar
chr1:229568470
rs121909519
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
95_ARG CYS 4.7kJPN
chr2:131221234
rs781391909
- 0.0001 -
95_ARG HIS 4.7kJPN
chr2:131414606
rs566028178
- 0.0002 -
97_ALA SER 4.7kJPN
chr2:131221228
rs563175525
- 0.0001 -
97_ALA SER 4.7kJPN
chr2:131414611
rs1007933915
- 0.0001 -
99_GLU LYS ClinVar
chr15:35085599
rs193922680
Pathogenic/Likely pathogenic - Atrial septal defect 5 [MedGen:C2748552,OMIM:612794]; Dilated cardiomyopathy 1R [MedGen:C3150681,OMIM:613424]; Familial hypertrophic cardiomyopathy 11 [MedGen:C2677506,OMIM:612098]; Familial hypertrophic cardiomyopathy 11 [MedGen:C2677506,OMIM:612098]; Left ventricular noncompaction 4 [MedGen:C3150682]; Primary familial hypertrophic cardiomyopathy [MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005]; not provided [MedGen:CN517202]
101_HIS ARG 4.7kJPN
chr2:131221215
-
- 0.0001 -
102_PRO ARG 4.7kJPN
chr2:131221212
-
- 0.0001 -
103_VAL LEU ClinVar
chr7:5568848
rs587779772
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
103_THR ALA 4.7kJPN
chr2:74135854
-
- 0.0001 -
103_THR ILE 4.7kJPN
chr2:74135855
-
- 0.0001 -
103_VAL ILE 4.7kJPN
chr2:130832638
rs4608469
- 0.0006 -
103_ILE VAL 4.7kJPN
chr2:131414629
rs762041881
- 0.0001 -
104_LEU PRO 4.7kJPN
chr2:131414633
rs1481441001
- 0.0001 -
107_GLU LYS 4.7kJPN
chr2:131414641
rs752054462
- 0.0001 -
109_THR PRO 4.7kJPN
chr2:130832620
rs4494683
- 0.0002 -
111_ASN ASP 4.7kJPN
chr2:131414653
rs558817093
- 0.001 -
112_PRO ALA 4.7kJPN
chr2:131221183
rs755787111
- 0.0018 -
115_ASN SER ClinVar
chr1:229568407
rs121909520
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
115_ASN SER ClinVar
chr2:74135891
rs1057522054
Likely pathogenic - not provided [MedGen:CN517202]
115_ASN ILE 4.7kJPN
chr2:131221173
rs765608208
- 0.0002 -
116_ARG GLN ClinVar
chr10:90703570
rs112602953
Pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Cardiovascular phenotype [MedGen:CN230736]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]; not provided [MedGen:CN517202]
116_ARG SER 4.7kJPN
chr1:229568405
-
- 0.0001 -
116_ARG HIS 4.7kJPN
chr2:130832598
rs3948036
- 0.0007 -
116_ARG HIS 4.7kJPN
chr2:131221170
rs4369872
- 0.9706 -
116_ARG HIS 4.7kJPN
chr2:131414669
rs541111504
- 0.1923 -
116_ARG HIS 4.7kJPN
chr2:132021475
rs11546936
- 0.0044 -
117_GLU LYS ClinVar
chr7:5568806
rs397515470
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
117_GLU ASP ClinVar
chr7:5568804
rs765265404
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
117_GLU VAL ClinVar
chr7:5568805
rs1554329516
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
117_GLU LYS 4.7kJPN
chr2:131221168
rs760790422
- 0.0004 -
117_GLU LYS 4.7kJPN
chr2:131414671
rs773477590
- 0.0001 -
118_LYS MET ClinVar
chr17:79478939
rs104894544
Likely pathogenic - Deafness, autosomal dominant 20 [MedGen:C1858172,OMIM:604717]; not provided [MedGen:CN517202]
118_LYS ASN ClinVar
chr17:79478938
rs267606630
Pathogenic - Deafness, autosomal dominant 20 [MedGen:C1858172,OMIM:604717]; not provided [MedGen:CN517202]
119_MET THR ClinVar
chr7:5568799
rs587779773
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
119_MET ILE 4.7kJPN
chr2:131414679
rs766525244
- 0.0001 -
120_THR ILE ClinVar
chr17:79478933
rs281875325
Pathogenic - Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
120_THR ILE ClinVar
chr7:5568796
rs587779774
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
123_MET VAL ClinVar
chr15:35085527
rs121912677
Pathogenic - Atrial septal defect 5 [MedGen:C2748552,OMIM:612794]
124_PHE LEU 4.7kJPN
chr2:132021500
rs746151227
- 0.0003 -
128_ASN ASP 4.7kJPN
chr2:131221135
rs568363873
- 0.0016 -
128_ASN ASP 4.7kJPN
chr2:131414704
-
- 0.0004 -
132_MET ILE 4.7kJPN
chr2:130832549
-
- 0.0001 -
132_MET THR 4.7kJPN
chr2:132021523
rs762400742
- 0.0001 -
133_TYR ASN ClinVar
chr2:74136215
rs587777388
Pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
135_ALA VAL ClinVar
chr17:79478612
rs11549190
Pathogenic - Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
136_ILE MET ClinVar
chr1:229568343
rs121909526
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
136_ILE ASN ClinVar
chr1:229568344
rs587780271
Likely pathogenic - Nemaline myopathy 3, autosomal dominant or recessive [MedGen:CN187050]
139_VAL MET 4.7kJPN
chr2:130832530
rs2599795
- 0.0001 -
139_MET VAL 4.7kJPN
chr2:131221102
rs4531942
- 0.9904 -
139_MET VAL 4.7kJPN
chr2:131414737
rs773598134
- 0.3594 -
139_VAL MET 4.7kJPN
chr2:132021543
rs753827162
- 0.0002 -
140_PRO LEU 4.7kJPN
chr2:132021547
rs7425410
- 0.0698 -
142_LEU PHE ClinVar
chr1:229568327
rs886039557
Pathogenic - not provided [MedGen:CN517202]
143_TYR TER ClinVar
chr1:229568322
rs371410845
Pathogenic - not provided [MedGen:CN517202]
144_ALA THR ClinVar
chr17:79478586
rs11549196
Likely pathogenic - Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]
144_ALA VAL 4.7kJPN
chr5:56778101
-
- 0.0001 -
146_GLY SER ClinVar
chr1:229568315
rs398123563
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
146_GLY ARG ClinVar
chr1:229568315
rs398123563
Pathogenic - not provided [MedGen:CN517202]
147_ARG CYS ClinVar
chr10:90701551
rs121434526
Pathogenic - Aortic aneurysm, familial thoracic 2 [MedGen:C1846837,OMIM:607087]; Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Cardiovascular phenotype [MedGen:CN230736]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]; not provided [MedGen:CN517202]
147_ARG SER ClinVar
chr2:74136257
rs587777383
Pathogenic - Chronic intestinal pseudoobstruction [MedGen:C0238062,Orphanet:ORPHA2978]; Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
147_ARG LEU ClinVar
chr2:74136258
rs730880256
Likely pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
147_ARG LEU ClinVar
chr10:90701550
rs794728025
Likely pathogenic - not provided [MedGen:CN517202]
147_ARG CYS 4.7kJPN
chr2:130832506
rs755247969
- 0.0002 -
147_ARG HIS 4.7kJPN
chr2:131221077
rs551881810
- 0.0001 -
148_THR SER ClinVar
chr1:229568308
rs1553255479
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
149_THR ILE ClinVar
chr7:5568268
rs587779775
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
152_VAL LEU ClinVar
chr1:229568173
rs768144106
Likely pathogenic - Congenital muscular dystrophy with rigid spine [MedGen:CN235626]
152_VAL ALA ClinVar
chr1:229568172
rs1553255446
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
153_MET LEU 4.7kJPN
chr2:131414779
-
- 0.0001 -
155_SER PHE ClinVar
chr17:79478552
rs281875326
Pathogenic - Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
155_SER CYS 4.7kJPN
chr2:132021592
-
- 0.0001 -
160_THR ILE ClinVar
chr7:5568235
rs1057518073
Likely pathogenic - not provided [MedGen:CN517202]
163_VAL LEU ClinVar
chr1:229568140
rs121909522
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
163_VAL MET ClinVar
chr1:229568140
rs121909522
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
163_VAL LEU ClinVar
chr1:229568140
rs121909522
Pathogenic - Myopathy, scapulohumeroperoneal [MedGen:C4225181,OMIM:616852,Orphanet:ORPHA447977]
164_PRO ALA ClinVar
chr15:35084729
rs267606628
Pathogenic - Familial hypertrophic cardiomyopathy 11 [MedGen:C2677506,OMIM:612098]
165_ILE MET ClinVar
chr7:5568219
-
Likely pathogenic - not provided [MedGen:CN517202]
165_ILE VAL 4.7kJPN
chr2:131221024
-
- 0.0001 -
167_ASP GLU 4.7kJPN
chr2:131414823
rs1257604920
- 0.0003 -
167_GLU ASP 4.7kJPN
chr2:132021629
rs7424029
- 0.1657 -
170_ALA GLU ClinVar
chr1:229568118
rs587780272
Pathogenic - Nemaline myopathy 3, autosomal dominant or recessive [MedGen:CN187050]
170_ALA SER 4.7kJPN
chr2:131414830
-
- 0.0001 -
172_PRO LEU ClinVar
chr1:229568112
rs1057519311
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
173_HIS ARG 4.7kJPN
chr5:56778014
rs771324969
- 0.0002 -
176_LEU PRO ClinVar
chr7:5568187
rs1554329331
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
177_ARG HIS ClinVar
chr10:90701066
rs387906592
Pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Cardiovascular phenotype [MedGen:CN230736]; Connective tissue disorder [MedGen:C0009782]; Moyamoya disease 5 [MedGen:C3279690,OMIM:614042]; Multisystemic smooth muscle dysfunction syndrome [MedGen:C3151201,OMIM:613834,Orphanet:ORPHA404463]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]; alterations of great arteries and veins [MedGen:CN239849]; not provided [MedGen:CN517202]
177_ARG LEU ClinVar
chr2:74140693
rs587777384
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
177_ARG CYS ClinVar
chr2:74140692
rs78001248
Pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]; not provided [MedGen:CN517202]
177_ARG HIS ClinVar
chr2:74140693
rs587777384
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
177_ARG LEU ClinVar
chr1:229568097
rs727503797
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
177_ARG CYS ClinVar
chr10:90701067
rs886039303
Pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; not provided [MedGen:CN517202]
177_ARG HIS 4.7kJPN
chr2:131220987
rs529516175
- 0.0005 -
177_ARG CYS 4.7kJPN
chr2:131220988
rs551179676
- 0.0002 -
177_ARG CYS 4.7kJPN
chr2:131414851
rs546363432
- 0.0002 -
177_ARG HIS 4.7kJPN
chr2:131414852
rs759119194
- 0.0007 -
177_ARG CYS 4.7kJPN
chr2:132021657
rs754774291
- 0.0002 -
179_ASP GLU ClinVar
chr7:5568177
rs797044950
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
179_ASP HIS 4.7kJPN
chr2:131220982
-
- 0.0001 -
179_ASP HIS 4.7kJPN
chr2:131414857
rs766870292
- 0.0002 -
179_ASP GLU 4.7kJPN
chr5:56777995
-
- 0.0001 -
183_ARG TRP ClinVar
chr7:5568167
rs104894003
Pathogenic/Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Juvenile-onset dystonia [MedGen:C1846331,OMIM:607371,Orphanet:ORPHA79107]; not provided [MedGen:CN517202]
183_ARG TRP ClinVar
chr15:35084672
rs397517065
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Primary dilated cardiomyopathy [EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004]
183_ARG SER ClinVar
chr1:229568080
rs1064794287
Pathogenic - not provided [MedGen:CN517202]
183_ARG CYS ClinVar
chr1:229568080
rs1064794287
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
184_ASP ASN 4.7kJPN
chr5:56777982
rs527573101
- 0.0001 -
186_PRO THR 4.7kJPN
chr2:130832389
rs199761904
- 0.0025 -
186_THR PRO 4.7kJPN
chr2:131220961
rs62163561
- 0.0016 -
186_THR PRO 4.7kJPN
chr2:131414878
rs201354416
- 0.2639 -
186_PRO THR 4.7kJPN
chr2:132021684
rs2672150
- 0.0006 -
190_MET ARG 4.7kJPN
chr5:56777963
-
- 0.0003 -
192_ILE PHE 4.7kJPN
chr2:131414896
rs547084134
- 0.0001 -
194_THR ILE ClinVar
chr2:74140744
rs1057520694
Pathogenic - not provided [MedGen:CN517202]
195_GLU ASP ClinVar
chr1:229568042
rs869312739
Pathogenic - Myopathy, scapulohumeroperoneal [MedGen:C4225181,OMIM:616852,Orphanet:ORPHA447977]; not provided [MedGen:CN517202]
195_GLU ASP ClinVar
chr2:74140748
rs140943831
Likely pathogenic - not provided [MedGen:CN517202]
196_ARG HIS ClinVar
chr7:5568127
rs281875334
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
196_ARG CYS ClinVar
chr7:5568128
rs281875333
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
196_ARG SER ClinVar
chr7:5568128
rs281875333
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
196_HIS ARG 4.7kJPN
chr2:130832358
rs2599793
- 0.5355 -
196_ARG HIS 4.7kJPN
chr2:131414909
rs548530110
- 0.0001 -
196_ARG HIS 4.7kJPN
chr2:132021715
rs780394961
- 0.0012 -
197_GLY ASP ClinVar
chr2:74140753
rs864309492
Pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
197_GLY ASP 4.7kJPN
chr2:131220927
rs1349939724
- 0.0002 -
197_GLY ALA 4.7kJPN
chr2:132021718
-
- 0.0001 -
199_SER ARG ClinVar
chr7:5568117
rs886041266
Likely pathogenic - not provided [MedGen:CN517202]
199_SER THR 4.7kJPN
chr7:5568118
-
- 0.0001 -
199_SER CYS 4.7kJPN
chr7:5568119
-
- 0.0001 -
199_SER THR 4.7kJPN
chr17:79478420
-
- 0.0001 -
199_SER CYS 4.7kJPN
chr17:79478421
-
- 0.0001 -
200_PHE ILE ClinVar
chr17:79478418
rs587780275
Likely pathogenic - Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]
201_VAL ILE 4.7kJPN
chr10:90700995
rs397516684
- 0.0001 -
202_THR PRO 4.7kJPN
chr2:131414926
-
- 0.0001 -
203_THR LYS ClinVar
chr17:79478408
rs281875327
Pathogenic - Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
203_MET VAL 4.7kJPN
chr2:131414929
rs569948094
- 0.0003 -
204_ALA GLY ClinVar
chr7:5568103
rs587779776
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
204_ALA THR ClinVar
chr2:74140773
rs1057516046
Pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
204_ALA THR ClinVar
chr1:229568017
rs1057521119
Likely pathogenic - not provided [MedGen:CN517202]
204_ALA GLY ClinVar
chr17:79478405
rs11549225
Likely pathogenic - not provided [MedGen:CN517202]
205_GLU ASP ClinVar
chr1:229567928
rs367543050
Pathogenic - Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]
206_ARG GLY ClinVar
chr7:5568098
rs1057518071
Likely pathogenic - not provided [MedGen:CN517202]
206_ARG GLN ClinVar
chr17:79478399
rs1555666715
Likely pathogenic - Nonsyndromic hearing loss and deafness [MedGen:CN043648,Orphanet:ORPHA87884]
206_ARG GLN 4.7kJPN
chr2:131220900
rs564547553
- 0.0004 -
206_ARG TRP 4.7kJPN
chr2:132021744
rs577200385
- 0.001 -
206_ARG HIS 4.7kJPN
chr15:35084476
rs142839840
- 0.0001 -
207_GLU GLY 4.7kJPN
chr5:56777912
rs137915627
- 0.0009 -
209_VAL MET ClinVar
chr7:5568089
rs587779777
Pathogenic/Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
209_VAL MET 4.7kJPN
chr2:131414947
rs202097988
- 0.0003 -
210_ARG GLN ClinVar
chr10:90699437
rs397516685
Pathogenic/Likely pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]; not provided [MedGen:CN517202]
210_ARG HIS ClinVar
chr7:5568085
rs1064793444
Pathogenic - not provided [MedGen:CN517202]
210_ARG HIS ClinVar
chr17:79478387
rs1555666709
Likely pathogenic - not provided [MedGen:CN517202]
210_ARG GLN ClinVar
chr2:74141825
rs1553396458
Likely pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
210_ARG HIS 4.7kJPN
chr2:130832316
rs550374458
- 0.0001 -
210_ARG HIS 4.7kJPN
chr2:131414951
rs200010374
- 0.0003 -
211_ASP TYR 4.7kJPN
chr2:131414953
-
- 0.0001 -
213_LYS GLN ClinVar
chr17:79478379
rs1057524703
Likely pathogenic - not provided [MedGen:CN517202]
218_TYR TER ClinVar
chr1:229567889
rs201823652
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
218_TYR PHE 4.7kJPN
chr2:130832292
rs62165871
- 0.3695 -
218_TYR PHE 4.7kJPN
chr2:131220864
rs77172375
- 0.9781 -
218_TYR PHE 4.7kJPN
chr2:131414975
rs4850168
- 0.3041 -
218_TYR PHE 4.7kJPN
chr2:132021781
rs553548999
- 0.0008 -
220_ALA THR 4.7kJPN
chr2:130832287
rs753144687
- 0.0001 -
221_LEU PRO ClinVar
chr1:229567881
rs121909530
Pathogenic - Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]
225_GLN GLU 4.7kJPN
chr2:130832272
-
- 0.0004 -
226_GLU GLN ClinVar
chr1:229567867
-
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
226_GLU GLN 4.7kJPN
chr2:131220841
-
- 0.0002 -
228_ALA GLY 4.7kJPN
chr17:79478333
-
- 0.0001 -
228_ALA THR 4.7kJPN
chr17:79478334
-
- 0.0001 -
229_MET ILE 4.7kJPN
chr2:131220830
rs574350751
- 0.0011 -
229_MET THR 4.7kJPN
chr2:131220831
rs2599792
- 0.9789 -
229_MET THR 4.7kJPN
chr2:131415008
rs62165279
- 0.1933 -
229_THR MET 4.7kJPN
chr2:132021814
rs1335497622
- 0.0046 -
230_VAL ALA 4.7kJPN
chr2:130832256
rs376938834
- 0.5301 -
230_ALA VAL 4.7kJPN
chr2:131220828
rs4850169
- 0.9797 -
230_ALA VAL 4.7kJPN
chr2:132021817
rs1352115051
- 0.0012 -
233_SER THR 4.7kJPN
chr2:130832247
rs1290431395
- 0.0001 -
233_SER THR 4.7kJPN
chr2:132021826
rs758028412
- 0.0001 -
236_LEU VAL 4.7kJPN
chr2:131415028
rs1193997837
- 0.0001 -
237_GLU GLN ClinVar
chr15:35084384
rs1555418785
Likely pathogenic - not provided [MedGen:CN517202]
238_LYS ASN ClinVar
chr10:90699352
rs727502878
Likely pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]
241_GLU LYS ClinVar
chr17:79478295
rs267606631
Likely pathogenic - Deafness, autosomal dominant 20 [MedGen:C1858172,OMIM:604717]; Nonsyndromic hearing loss and deafness [MedGen:CN043648,Orphanet:ORPHA87884]; not provided [MedGen:CN517202]
241_GLU LYS ClinVar
chr1:229567822
rs367543051
Pathogenic - Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]
244_ASP ASN 4.7kJPN
chr2:131220787
rs760161629
- 0.0001 -