PDB ID 3CJC CHAIN A
Protein name Actin, alpha skeletal muscle
Uniprot Accession P68135
The number of similar proteins 154
The number of binding states 43
The number of binding partners 31
Coloring
Unicolor (beige)
The number of binding partners
Group

Downdload
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Molecule viewer
#binding
partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0
Sequence information
1   MCDEDETTAL   VCDNGSGLVK   AGFAGDDAPR   AVFPSIVGRP   RHQGVMVGMG   50
51   QKDSYVGDEA   QSKRGILTLK   YPIEHGIITN   WDDMEKIWHH   TFYNELRVAP   100
101   EEHPTLLTEA   PLNPKANREK   MTQIMFETFN   VPAMYVAIQA   VLSLYASGRT   150
151   TGIVLDSGDG   VTHNVPIYEG   YALPHAIMRL   DLAGRDLTDY   LMKILTERGY   200
201   SFVTTAEREI   VRDIKEKLCY   VALDFENEMA   TAASSSSLEK   SYELPDGQVI   250
251   TIGNERFRCP   ETLFQPSFIG   MESAGIHETT   YNSIMKCDID   IRKDLYANNV   300
301   MSGGTTMYPG   IADRMQKEIT   ALAPSTMKIK   IIAPPERKYS   VWIGGSILAS   350
351   LSTFQQMWIT   KQEYDEAGPS   IVHRKCF       400
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
1_ASP TYR ClinVar
chr1:229568856
rs121909527 Pathogenic Myopathy, actin, congenital, with cores [MedGen:C2750537]
2_ASP HIS ClinVar
chr15:35087000
rs730880408 Likely pathogenic not provided [MedGen:CN517202]
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]
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]
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]
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]
21_PHE LEU ClinVar
chr15:35086943
rs193922681 Likely pathogenic Primary familial hypertrophic cardiomyopathy [MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005]
22_ALA THR ClinVar
chr7:5569225
rs587780273 Likely pathogenic Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
35_VAL LEU ClinVar
chr1:229568754
rs1553255521 Pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
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]
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]
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]
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]
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]
56_ASP ASN ClinVar
chr1:229568585
rs1085308014 Likely pathogenic not provided [MedGen:CN517202]
62_ARG GLY ClinVar
chr2:74129547
rs864309491 Pathogenic Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
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]
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]
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]
86_TRP CYS ClinVar
chr7:5568897
rs1554329554 Likely pathogenic not provided [MedGen:CN517202]
87_HIS ASP ClinVar
chr7:5568896
rs1554329552 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
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]
93_GLU LYS ClinVar
chr17:79479015
- Likely pathogenic not provided [MedGen:CN517202]
94_LEU PRO ClinVar
chr1:229568470
rs121909519 Pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
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]
103_VAL LEU ClinVar
chr7:5568848
rs587779772 Pathogenic Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
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]
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]
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]
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]
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]
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]
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]
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]
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]
155_SER PHE ClinVar
chr17:79478552
rs281875326 Pathogenic Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
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]
170_ALA GLU ClinVar
chr1:229568118
rs587780272 Pathogenic Nemaline myopathy 3, autosomal dominant or recessive [MedGen:CN187050]
172_PRO LEU ClinVar
chr1:229568112
rs1057519311 Likely pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
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]
179_ASP GLU ClinVar
chr7:5568177
rs797044950 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
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]
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]
197_GLY ASP ClinVar
chr2:74140753
rs864309492 Pathogenic Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
199_SER ARG ClinVar
chr7:5568117
rs886041266 Likely pathogenic not provided [MedGen:CN517202]
200_PHE ILE ClinVar
chr17:79478418
rs587780275 Likely pathogenic Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]
203_THR LYS ClinVar
chr17:79478408
rs281875327 Pathogenic Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
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]
209_VAL MET ClinVar
chr7:5568089
rs587779777 Pathogenic/Likely pathogenic Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
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]
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]
221_LEU PRO ClinVar
chr1:229567881
rs121909530 Pathogenic Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]
226_GLU GLN ClinVar
chr1:229567867
- Likely pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
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]
245_GLY ARG ClinVar
chr1:229567810
rs1057521117 Pathogenic not provided [MedGen:CN517202]
254_ARG TRP ClinVar
chr17:79478256
rs281875328 Pathogenic Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
256_ARG HIS ClinVar
chr10:90699299
rs121434527 Pathogenic Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Moyamoya disease 5 [MedGen:C3279690,OMIM:614042]; not provided [MedGen:CN517202]
256_ARG CYS ClinVar
chr10:90699300
rs121434528 Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Cardiovascular phenotype [MedGen:CN230736]; Moyamoya disease 5 [MedGen:C3279690,OMIM:614042]; not provided [MedGen:CN517202]
256_ARG TRP ClinVar
chr17:79478250
rs281875329 Pathogenic Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
256_ARG CYS ClinVar
chr2:74141962
rs587777387 Pathogenic Chronic intestinal pseudoobstruction [MedGen:C0238062,Orphanet:ORPHA2978]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Megacystis [Human Phenotype Ontology:HP:0000021,MedGen:C1855311]; Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]; Visceral neuropathy, familial, autosomal dominant [MedGen:C1864996,OMIM:609629]; not provided [MedGen:CN517202]
256_ARG HIS ClinVar
chr2:74141963
rs797044959 Pathogenic Chronic intestinal pseudoobstruction [MedGen:C0238062,Orphanet:ORPHA2978]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Megacystis [Human Phenotype Ontology:HP:0000021,MedGen:C1855311]
258_PRO LEU ClinVar
chr7:5567941
rs1554329281 Pathogenic not provided [MedGen:CN517202]
259_GLU VAL ClinVar
chr1:229567767
rs121909523 Likely pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
264_PRO LEU ClinVar
chr17:79478225
rs104894546 Pathogenic Deafness, autosomal dominant 20 [MedGen:C1858172,OMIM:604717]; not provided [MedGen:CN517202]
266_PHE SER ClinVar
chr1:229567746
- Pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
268_GLY CYS ClinVar
chr1:229567741
rs121909525 Pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
268_GLY GLU ClinVar
chr10:90697999
rs794728029 Pathogenic not provided [MedGen:CN517202]
268_GLY ARG ClinVar
chr1:229567741
rs121909525 Pathogenic/Likely pathogenic Congenital myopathy [MedGen:C0270960,OMIM:255300,Orphanet:ORPHA97245]; Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
268_GLY ARG ClinVar
chr7:5567912
rs1554329269 Pathogenic Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
268_GLY ASP ClinVar
chr1:229567649
rs1553255362 Pathogenic/Likely pathogenic Nemaline myopathy 3, autosomal dominant or recessive [MedGen:CN187050]; not provided [MedGen:CN517202]
269_MET THR ClinVar
chr15:35083493
rs730880401 Likely pathogenic not provided [MedGen:CN517202]
269_MET ARG ClinVar
chr1:229567646
rs1553255360 Likely pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
272_ALA VAL ClinVar
chr1:229567637
rs1553255357 Pathogenic not provided [MedGen:CN517202]
276_GLU LYS ClinVar
chr7:5567793
rs1554329216 Likely pathogenic not provided [MedGen:CN517202]
278_THR ILE ClinVar
chr17:79478104
rs28999112 Pathogenic Deafness, autosomal dominant 20 [MedGen:C1858172,OMIM:604717]
283_MET VAL ClinVar
chr17:79478090
rs1555666509 Likely pathogenic not provided [MedGen:CN517202]
287_ILE THR ClinVar
chr15:35083439
rs727504379 Likely pathogenic Cardiomyopathy [Human Phenotype Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:85898001]; not provided [MedGen:CN517202]
288_ASP GLY ClinVar
chr17:79478074
rs886041756 Likely pathogenic not provided [MedGen:CN517202]
288_ASP HIS ClinVar
chr1:229567590
rs1553255354 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
290_ARG CYS ClinVar
chr7:5567751
rs1057517888 Likely pathogenic not provided [MedGen:CN517202]
292_ASP VAL ClinVar
chr1:229567577
rs121909529 Pathogenic Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]
294_TYR HIS ClinVar
chr15:35083419
rs730880402 Likely pathogenic not provided [MedGen:CN517202]
295_ALA SER ClinVar
chr15:35083416
rs121912675 Pathogenic Familial hypertrophic cardiomyopathy 11 [MedGen:C2677506,OMIM:612098]
296_ASN LYS ClinVar
chr15:35083411
rs863225303 Pathogenic Dilated cardiomyopathy 1R [MedGen:C3150681,OMIM:613424]
296_ASN LYS ClinVar
chr7:5567731
rs769182426 Likely pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
306_TYR CYS ClinVar
chr1:229567535
rs878854374 Likely pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
312_ARG HIS ClinVar
chr15:35083364
rs121912673 Likely pathogenic Atrial septal defect 5 [MedGen:C2748552,OMIM:612794]; Dilated cardiomyopathy 1R [MedGen:C3150681,OMIM:613424]; Dilated cardiomyopathy 1R [MedGen:C3150681,OMIM:613424]; Familial hypertrophic cardiomyopathy 11 [MedGen:C2677506,OMIM:612098]; not provided [MedGen:CN517202]
312_ARG TER ClinVar
chr10:90697868
rs886038978 Pathogenic Cardiovascular phenotype [MedGen:CN230736]
316_GLU LYS ClinVar
chr15:35083353
rs730880403 Likely pathogenic not provided [MedGen:CN517202]
321_ALA VAL ClinVar
chr15:35083337
rs730880404 Pathogenic not provided [MedGen:CN517202]
326_LYS ASN ClinVar
chr1:229567474
rs398122936 Pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
327_ILE THR ClinVar
chr15:35083319
rs730880410 Likely pathogenic not provided [MedGen:CN517202]
331_ALA PRO ClinVar
chr15:35082750
rs267606629 Pathogenic Familial hypertrophic cardiomyopathy 11 [MedGen:C2677506,OMIM:612098]
331_ALA VAL ClinVar
chr15:35082749
rs730880406 Likely pathogenic not provided [MedGen:CN517202]
332_PRO SER ClinVar
chr1:229567380
rs121909531 Pathogenic Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]
332_PRO ALA ClinVar
chr17:79477850
rs104894545 Pathogenic Deafness, autosomal dominant 20 [MedGen:C1858172,OMIM:604717]
333_PRO GLN ClinVar
chr1:229567376
rs1057518493 Likely pathogenic not provided [MedGen:CN517202]
334_GLU ALA ClinVar
chr1:229567373
rs121909528 Pathogenic Myopathy, actin, congenital, with cores [MedGen:C2750537]
335_ARG HIS ClinVar
chr17:79477840
rs1555666392 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
338_SER PHE ClinVar
chr7:5567494
rs1554329113 Likely pathogenic Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
340_TRP CYS ClinVar
chr7:5567487
rs886041790 Pathogenic not provided [MedGen:CN517202]
340_TRP CYS ClinVar
chr7:5567487
rs886041790 Likely pathogenic not provided [MedGen:CN517202]
348_SER LEU ClinVar
chr7:5567464
rs886041309 Pathogenic not provided [MedGen:CN517202]
350_SER PRO ClinVar
chr1:229567326
rs1553255301 Likely pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
356_TRP CYS ClinVar
chr1:229567306
rs587777354 Pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
357_ILE LEU ClinVar
chr1:229567305
rs121909524 Pathogenic Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
361_GLU GLY ClinVar
chr15:35082659
rs121912674 Pathogenic Dilated cardiomyopathy 1R [MedGen:C3150681,OMIM:613424]
364_GLU LYS ClinVar
chr7:5567417
rs368352689 Pathogenic Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
367_PRO LEU ClinVar
chr1:229567274
rs1553255293 Likely pathogenic not provided [MedGen:CN517202]
370_VAL ALA ClinVar
chr17:79477735
rs104894547 Pathogenic Deafness, autosomal dominant 20 [MedGen:C1858172,OMIM:604717]