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:  
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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
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]
73_ARG TER ClinVar
chr7:155604603
rs779093031 Pathogenic Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
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]
112_ILE PHE ClinVar
chr7:155599221
rs104894049 Pathogenic Single median maxillary incisor [Human Phenotype Ontology:HP:0006315,MedGen:C1840235,OMIM:147250,Orphanet:ORPHA2286]
116_ASN LYS ClinVar
chr7:155599207
rs267607047 Pathogenic Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
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]
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]
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]
159_TYR TER ClinVar
chr7:155599078
rs146990376 Pathogenic Holoprosencephaly 3 [MedGen:C1840529,OMIM:142945]
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]