PDB ID 1VHH     CHAIN A
Protein name SONIC HEDGEHOG
Uniprot Accession Q62226
The number of similar proteins 19
The number of binding states 5
The number of binding partners 5

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
1VHH (CHAIN: A)
1 Monomeric state
2 Q4KMG0  
3 Q62226  
4 Q96QV1  
5 3MXW   3MXW  

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Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   RRHPKKLTPL   AYKQFIPNVA   EKTLGASGRY   EGKITRNSER   FKELTPNYNP   50
51   DIIFKDEENT   GADRLMTQRC   KDKLNALAIS   VMNQWPGVKL   RVTEGWDEDG   100
101   HHSEESLHYE   GRAVDITTSD   RDRSKYGMLA   RLAVEAGFDW   VYYESKAHIH   150
151   CSVKAENSVA   AK         200

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
42_PRO LEU ClinVar
chr2:219925053
rs121917856
Pathogenic - - Acrocapitofemoral dysplasia [MONDO:MONDO:0011907,MedGen:C1843096,OMIM:607778,Orphanet:63446]
47_GLN LYS ClinVar
chr2:219925039
rs1553540620
Likely pathogenic - - Hirschsprung disease, susceptibility to, 1 [MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388]
51_ASN SER 8.3kJPN
chr7:155604668
-
- 0.0001 - -
54_GLU TER ClinVar
chr2:219925018
rs2106310580
Pathogenic - - not provided [MedGen:C3661900]
54_GLU LYS ClinVar
chr2:219925018
-
Pathogenic - - not provided [MedGen:C3661900]
62_ARG SER gnomAD
chr7:155604634
rs776420800
- 0.00026243 - -
70_ASN ILE ClinVar
chr7:155604611
rs777486607
Likely pathogenic - - Autism [Human Phenotype Ontology:HP:0000717,MONDO:MONDO:0005260,MedGen:C0004352,OMIM:209850]
73_ARG TER ClinVar
chr7:155604603
rs779093031
Pathogenic - - Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
73_ARG SER gnomAD
chr2:219924961
rs142036701
- 0.000761168 - -
80_ASN HIS 8.3kJPN
chr7:155604582
-
- 0.0001 - -
84_ASP HIS 8.3kJPN
chr7:155604570
-
- 0.0001 - -
89_ASP VAL ClinVar
chr7:155604554
rs104894050
Pathogenic - - Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
91_GLU LYS ClinVar
chr2:219924907
rs121917852
Pathogenic - - Brachydactyly type A1|not provided [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,Orphanet:93388|MedGen:C3661900]
91_GLU GLY ClinVar
chr2:219924906
rs121917859
Pathogenic - - Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,Orphanet:93388]
96_ASP GLU ClinVar
chr2:219924890
rs121917854
Pathogenic - - Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,Orphanet:93388]
96_ASP ASN ClinVar
chr2:219924892
rs121917855
Pathogenic - - Brachydactyly type A1|Brachydactyly type A1A|not provided [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,Orphanet:93388|MONDO:MONDO:0020701,MedGen:CN295859,OMIM:112500|MedGen:C3661900]
101_GLN TER ClinVar
chr7:155604519
rs104894044
Pathogenic - - Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
101_GLN HIS ClinVar
chr7:155604517
rs587778792
Pathogenic - - Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
106_LYS TER ClinVar
chr7:155599239
rs104894045
Pathogenic - - Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
112_ILE PHE ClinVar
chr7:155599221
rs104894049
Pathogenic - - Solitary median maxillary central incisor syndrome [Human Phenotype Ontology:HP:0001568,Human Phenotype Ontology:HP:0001573,Human Phenotype Ontology:HP:0006315,Human Phenotype Ontology:HP:0006356,MONDO:MONDO:0007819,MedGen:C1840235,OMIM:147250]
114_VAL MET ClinVar
chr2:219922380
rs1454141074
Likely pathogenic - - Acrocapitofemoral dysplasia [MONDO:MONDO:0011907,MedGen:C1843096,OMIM:607778,Orphanet:63446]
116_ASN LYS ClinVar
chr7:155599207
rs267607047
Pathogenic - - Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
117_GLN HIS 8.3kJPN
chr2:219922369
-
- 0.0001 - -
118_TRP GLY ClinVar
chr7:155599203
rs104894040
Pathogenic - - Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
118_TRP ARG ClinVar
chr7:155599203
rs104894040
Pathogenic - - Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
120_GLY ASP 8.3kJPN
chr2:219922361
-
- 0.0001 - -
124_ARG GLN ClinVar
chr2:219922349
rs267606873
Likely pathogenic - - Brachydactyly type A1|not provided [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,Orphanet:93388|MedGen:C3661900]
126_THR ASN ClinVar
chr2:219922343
rs267606872
Pathogenic - - Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,Orphanet:93388]
127_GLU LYS ClinVar
chr2:219922341
rs121917853
Pathogenic - - Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,Orphanet:93388]
129_TRP TER ClinVar
chr7:155599169
rs104894053
Pathogenic - - Holoprosencephaly 3|Solitary median maxillary central incisor syndrome|not provided [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162|Human Phenotype Ontology:HP:0001568,Human Phenotype Ontology:HP:0001573,Human Phenotype Ontology:HP:0006315,Human Phenotype Ontology:HP:0006356,MONDO:MONDO:0007819,MedGen:C1840235,OMIM:147250|MedGen:C3661900]
129_TRP TER ClinVar
chr2:219922333
-
Pathogenic - - not provided [MedGen:C3661900]
142_TYR TER ClinVar
chr7:155599129
rs763132615
Pathogenic - - not provided [MedGen:CN517202]
145_ARG HIS ClinVar
chr7:155599121
-
Likely pathogenic - - Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
146_ALA THR ClinVar
chr2:219922284
rs1948842142
Likely pathogenic - - Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,Orphanet:93388]
150_THR ILE ClinVar
chr2:219922271
rs121917861
Pathogenic - - Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,Orphanet:93388]
156_ARG SER ClinVar
chr2:219922254
rs1948842030
Likely pathogenic - - Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,Orphanet:93388]
156_ARG CYS ClinVar
chr2:219922254
rs1948842030
Pathogenic/Likely pathogenic - - Acrocapitofemoral dysplasia [MONDO:MONDO:0011907,MedGen:C1843096,OMIM:607778,Orphanet:63446]
156_ARG LEU 8.3kJPN
chr2:219922253
-
- 0.0001 - -
158_LYS GLU ClinVar
chr2:219922248
rs1948841937
Likely pathogenic - - Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,Orphanet:93388]
159_TYR TER ClinVar
chr7:155599078
rs146990376
Pathogenic - - Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
161_MET VAL 8.3kJPN
chr7:155599074
-
- 0.0001 - -
176_TYR TER ClinVar
chr7:155599027
rs1803360739
Pathogenic - - not provided [MedGen:C3661900]
176_TYR TER ClinVar
chr2:219922192
-
Pathogenic - - not provided [MedGen:C3661900]
186_VAL ALA ClinVar
chr2:219922163
rs121917857
Pathogenic - - Acrocapitofemoral dysplasia|not provided [MONDO:MONDO:0011907,MedGen:C1843096,OMIM:607778,Orphanet:63446|MedGen:C3661900]
189_GLU GLN ClinVar
chr7:155598990
rs587778799
Pathogenic - - Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
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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.