PiSITE

PDB ID	1VHH	CHAIN	A
Protein name	SONIC HEDGEHOG
Uniprot Accession	Q62226
The number of similar proteins	23
The number of binding states	6
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
6	8YYZ 8YYZ

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Only interaction residues

#binding
partners

	4
	3
	2
	1
	0

Sequence information

RRHPKKLTPL

AYKQFIPNVA

EKTLGASGRY

EGKITRNSER

FKELTPNYNP

DIIFKDEENT

GADRLMTQRC

KDKLNALAIS

VMNQWPGVKL

RVTEGWDEDG

100

101

HHSEESLHYE

GRAVDITTSD

RDRSKYGMLA

RLAVEAGFDW

VYYESKAHIH

150

151

CSVKAENSVA

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\|Brachydactyly type A1 [MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388\|Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,Orphanet:93388]
47_GLN	TER	ClinVar chr7:155604681 rs2535910513	Pathogenic	-	-	Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
51_ASN	SER	8.3kJPN chr7:155604668 -	-	0.0001	-	-
53_ALA	THR	ClinVar chr7:155604663 -	Likely 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]
54_GLU	TER	ClinVar chr2:219925018 rs2106310580	Pathogenic	-	-	not provided [MedGen:C3661900]
54_GLU	LYS	ClinVar chr2:219925018 rs2106310580	Pathogenic	-	-	not provided\|Brachydactyly type A1 [MedGen:C3661900\|Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,Orphanet:93388]
54_GLU	LYS	ClinVar chr7:155604660 -	Likely 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]
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,MeSH:D001321,MedGen:C0004352,OMIM:209850]
73_ARG	TER	ClinVar chr7:155604603 rs779093031	Pathogenic	-	-	Holoprosencephaly 3\|Developmental and epileptic encephalopathy, 11 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162\|MONDO:MONDO:0013388,MedGen:C3150987,OMIM:613721,Orphanet:1934]
73_ARG	SER	gnomAD chr2:219924961 rs142036701	-	0.000761168	-	-
80_ASN	HIS	8.3kJPN chr7:155604582 -	-	0.0001	-	-
84_ASP	VAL	ClinVar chr7:155604569 -	Likely pathogenic	-	-	Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
84_ASP	HIS	8.3kJPN chr7:155604570 -	-	0.0001	-	-
88_LYS	GLN	ClinVar chr2:219924916 -	Pathogenic	-	-	not provided [MedGen:C3661900]
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,OMIM:112500,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,OMIM:112500,Orphanet:93388]
96_ASP	GLU	ClinVar chr2:219924890 rs121917854	Pathogenic	-	-	Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,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,OMIM:112500,Orphanet:93388\|MONDO:MONDO:0020701,MedGen:CN295859\|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\|Inborn genetic diseases [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162\|MeSH:D030342,MedGen:C0950123]
111_ALA	ASP	ClinVar chr7:155599223 -	Likely 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]
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,OMIM:112500,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,OMIM:112500,Orphanet:93388]
127_GLU	LYS	ClinVar chr2:219922341 rs121917853	Likely pathogenic	-	-	Brachydactyly type A1\|not provided [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,Orphanet:93388\|MedGen:C3661900]
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 rs2469514390	Pathogenic	-	-	not provided [MedGen:C3661900]
131_GLU	TER	ClinVar chr7:155599164 -	Pathogenic	-	-	Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
136_SER	TER	ClinVar chr7:155599148 -	Pathogenic	-	-	Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
136_SER	TER	ClinVar chr2:219922313 -	Likely pathogenic	-	-	Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,Orphanet:93388]
142_TYR	TER	ClinVar chr7:155599129 rs763132615	Pathogenic	-	-	not provided\|Holoprosencephaly 3 [MedGen:C3661900\|MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
144_GLY	ASP	ClinVar chr7:155599124 -	Likely 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]
145_ARG	HIS	ClinVar chr7:155599121 rs2535901206	Likely pathogenic	-	-	Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
145_ARG	LEU	ClinVar chr7:155599121 -	Likely 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]
146_ALA	THR	ClinVar chr2:219922284 rs1948842142	Likely pathogenic	-	-	Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,Orphanet:93388]
148_ASP	ASN	ClinVar chr7:155599113 -	Likely pathogenic	-	-	Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
150_THR	ILE	ClinVar chr2:219922271 rs121917861	Pathogenic	-	-	Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,Orphanet:93388]
151_THR	ARG	ClinVar chr7:155599103 -	Likely pathogenic	-	-	Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
151_THR	LYS	ClinVar chr7:155599103 -	Likely pathogenic	-	-	Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
154_ARG	CYS	ClinVar chr2:219922260 rs2469514264	Pathogenic/Likely pathogenic	-	-	not provided [MedGen:C3661900]
156_ARG	SER	ClinVar chr2:219922254 rs1948842030	Likely pathogenic	-	-	Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,Orphanet:93388]
156_ARG	CYS	ClinVar chr2:219922254 rs1948842030	Pathogenic	-	-	Acrocapitofemoral dysplasia\|Brachydactyly type A1 [MONDO:MONDO:0011907,MedGen:C1843096,OMIM:607778,Orphanet:63446\|Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,Orphanet:93388]
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,OMIM:112500,Orphanet:93388]
158_LYS	THR	ClinVar chr2:219922247 -	Likely pathogenic	-	-	Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,Orphanet:93388]
158_LYS	TER	ClinVar chr7:155599083 -	Pathogenic	-	-	Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
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	-	-
166_ALA	VAL	ClinVar chr7:155599058 -	Likely pathogenic	-	-	Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
169_ALA	GLY	ClinVar chr7:155599049 -	Likely pathogenic	-	-	Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
174_VAL	LEU	ClinVar chr2:219922200 -	Pathogenic	-	-	Brachydactyly type A1 [Human Phenotype Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,Orphanet:93388]
175_TYR	CYS	ClinVar chr7:155599031 -	Likely pathogenic	-	-	Holoprosencephaly 3 [MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162]
176_TYR	TER	ClinVar chr7:155599027 rs1803360739	Pathogenic	-	-	not provided [MedGen:C3661900]
176_TYR	TER	ClinVar chr2:219922192 rs768257762	Pathogenic	-	-	not provided [MedGen:C3661900]
185_SER	LEU	ClinVar chr7:155599001 -	Likely 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]
186_VAL	ALA	ClinVar chr2:219922163 rs121917857	Pathogenic	-	-	Acrocapitofemoral dysplasia\|not provided [MONDO:MONDO:0011907,MedGen:C1843096,OMIM:607778,Orphanet:63446\|MedGen:C3661900]
186_VAL	ALA	ClinVar chr7:155598998 -	Likely 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]
189_GLU	GLN	ClinVar chr7:155598990 rs587778799	Likely 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

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Sequence information

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Binding partner information

Variants

Reference

	8YYZ	Light chain antibody 5E1
	8YYZ	Heavy chain antibody 5E1 mutated