PDB ID 1VHH     CHAIN A
Protein name SONIC HEDGEHOG
Uniprot Accession Q62226
The number of similar proteins 18
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  

Downdload

Format:

Molecule viewer

#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
(4.7kJPN)
Disease name
42_PRO LEU ClinVar
chr2:219925053
rs121917856
Pathogenic - Acrocapitofemoral dysplasia [MedGen:C1843096,OMIM:607778,Orphanet:ORPHA63446]
47_GLN LYS ClinVar
chr2:219925039
rs1553540620
Likely pathogenic - Hirschsprung disease 1 [MedGen:C3888239,OMIM:142623]
51_ASN LYS 4.7kJPN
chr2:219925025
-
- 0.0001 -
53_PRO ALA 4.7kJPN
chr2:219925021
-
- 0.0001 -
62_ARG SER 4.7kJPN
chr2:219924994
-
- 0.0001 -
68_ALA THR 4.7kJPN
chr2:219924976
rs1248153001
- 0.0001 -
73_ARG TER ClinVar
chr7:155604603
rs779093031
Pathogenic - Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
84_ASP HIS 4.7kJPN
chr7:155604570
-
- 0.0001 -
89_ASP VAL ClinVar
chr7:155604554
rs104894050
Pathogenic - Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
91_GLU LYS ClinVar
chr2:219924907
rs121917852
Pathogenic - Type A1 brachydactyly [Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388]
91_GLU GLY ClinVar
chr2:219924906
rs121917859
Pathogenic - Type A1 brachydactyly [Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388]
96_ASP GLU ClinVar
chr2:219924890
rs121917854
Pathogenic - Type A1 brachydactyly [Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388]
96_ASP ASN ClinVar
chr2:219924892
rs121917855
Pathogenic - Type A1 brachydactyly [Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388]
101_GLN TER ClinVar
chr7:155604519
rs104894044
Pathogenic - Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
101_GLN HIS ClinVar
chr7:155604517
rs587778792
Pathogenic - Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
106_LYS TER ClinVar
chr7:155599239
rs104894045
Pathogenic - Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
106_ARG HIS 4.7kJPN
chr2:219922403
rs1317408368
- 0.0001 -
106_ARG SER 4.7kJPN
chr2:219922404
rs748917622
- 0.0001 -
112_ILE PHE ClinVar
chr7:155599221
rs104894049
Pathogenic - Single median maxillary incisor [Human Phenotype Ontology:HP:0006315,MedGen:C1840235,OMIM:147250,Orphanet:ORPHA2286]
113_SER ALA 4.7kJPN
chr7:155599218
-
- 0.0001 -
115_MET LEU 4.7kJPN
chr7:155599212
-
- 0.0001 -
116_ASN LYS ClinVar
chr7:155599207
rs267607047
Pathogenic - Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
117_GLN HIS 4.7kJPN
chr2:219922369
-
- 0.0001 -
117_GLN LEU 4.7kJPN
chr2:219922370
-
- 0.0001 -
117_GLN LYS 4.7kJPN
chr2:219922371
-
- 0.0001 -
117_GLN LEU 4.7kJPN
chr7:155599205
-
- 0.0001 -
117_GLN LYS 4.7kJPN
chr7:155599206
-
- 0.0001 -
118_TRP GLY ClinVar
chr7:155599203
rs104894040
Pathogenic - Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
118_TRP ARG ClinVar
chr7:155599203
rs104894040
Pathogenic - Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
120_GLY ASP 4.7kJPN
chr2:219922361
-
- 0.0001 -
122_LYS GLN 4.7kJPN
chr7:155599191
-
- 0.0001 -
124_ARG GLN ClinVar
chr2:219922349
rs267606873
Pathogenic - Type A1 brachydactyly [Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388]
126_THR ASN ClinVar
chr2:219922343
rs267606872
Pathogenic - Type A1 brachydactyly [Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388]
127_GLU LYS ClinVar
chr2:219922341
rs121917853
Pathogenic - Type A1 brachydactyly [Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388]
129_TRP TER ClinVar
chr7:155599169
rs104894053
Pathogenic - Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]; Single median maxillary incisor [Human Phenotype Ontology:HP:0006315,MedGen:C1840235,OMIM:147250,Orphanet:ORPHA2286]; not provided [MedGen:CN517202]
136_SER LEU 4.7kJPN
chr2:219922313
-
- 0.0001 -
136_SER LEU 4.7kJPN
chr7:155599148
-
- 0.0001 -
142_TYR TER ClinVar
chr7:155599129
rs763132615
Pathogenic - not provided [MedGen:CN517202]
150_THR ILE ClinVar
chr2:219922271
rs121917861
Pathogenic - Type A1 brachydactyly [Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388]
156_ARG LEU 4.7kJPN
chr2:219922253
-
- 0.0001 -
156_ARG HIS 4.7kJPN
chr7:155599088
-
- 0.0001 -
156_ARG SER 4.7kJPN
chr7:155599089
-
- 0.0001 -
159_TYR TER ClinVar
chr7:155599078
rs146990376
Pathogenic - Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
161_MET THR 4.7kJPN
chr7:155599073
rs747511798
- 0.0001 -
161_MET VAL 4.7kJPN
chr7:155599074
-
- 0.0001 -
163_ALA SER 4.7kJPN
chr7:155599068
-
- 0.0001 -
186_VAL ALA ClinVar
chr2:219922163
rs121917857
Pathogenic - Acrocapitofemoral dysplasia [MedGen:C1843096,OMIM:607778,Orphanet:ORPHA63446]
189_GLU GLN ClinVar
chr7:155598990
rs587778799
Pathogenic - Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
(Powered by wupsivus)

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.