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)		 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.