PiSITE

PDB ID	1APH	CHAIN	B
Protein name	INSULIN B CHAIN (PH 7)
Uniprot Accession	P01317
The number of similar proteins	553
The number of binding states	9
The number of binding partners	5

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	1APH (CHAIN: B)
1	Monomeric state
2	P01315
3	P06213
4	Q5T5N2
5	6Z7Z 6Z7Z
6	P01308 P01308
7	P01308 P01308 P01308
8	8ONK 8ONK 8ONK
9	P01308 P01308 P01308 P01308

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Molecule viewer

Only interaction residues

#binding
partners

	4
	3
	2
	1
	0

Sequence information

1

FVNQHLCGSH

LVEALYLVCG

ERGFFYTPKA

50

Variants

	Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
	8_GLY	SER	ClinVar chr11:2182108 rs80356664	Pathogenic/Likely pathogenic	-	-	Permanent neonatal diabetes mellitus\|Neonatal diabetes mellitus\|Type 1 diabetes mellitus 2\|Diabetes mellitus, permanent neonatal 4\|not provided [MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885\|MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224\|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852\|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858\|MedGen:C3661900]
	8_GLY	VAL	ClinVar chr11:2182107 rs2133676747	Likely pathogenic	-	-	not provided [MedGen:C3661900]
	10_HIS	PRO	ClinVar chr11:2182101 rs1564912274	Likely pathogenic	-	-	Neonatal diabetes mellitus [MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224]
	11_LEU	VAL	ClinVar chr11:2182099 rs1278232284	Likely pathogenic	-	-	not provided [MedGen:C3661900]
	11_LEU	MET	ClinVar chr11:2182099 rs1278232284	Likely pathogenic	-	-	Neonatal diabetes mellitus [MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224]
	15_LEU	PHE	ClinVar chr11:2182087 rs2133676660	Likely pathogenic	-	-	Maturity-onset diabetes of the young type 10 [MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552]
	18_VAL	ALA	ClinVar chr11:2182077 rs886037863	Pathogenic/Likely pathogenic	-	-	Maturity-onset diabetes of the young type 10\|not provided [MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552\|MedGen:C3661900]
	19_CYS	GLY	ClinVar chr11:2182075 rs80356666	Pathogenic/Likely risk allele	-	-	Permanent neonatal diabetes mellitus\|Neonatal diabetes mellitus\|Diabetes mellitus, permanent neonatal 4\|Type 2 diabetes mellitus\|not provided [MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885\|MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224\|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858\|Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853\|MedGen:C3661900]
	19_CYS	TRP	ClinVar chr11:2182073 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
	22_ARG	TER	ClinVar chr11:2182066 rs1225892123	Likely pathogenic	-	-	INS-related disorder [-]
	22_ARG	TER	8.3kJPN chr11:2182066 rs1225892123	-	0.0001	-	-
	24_PHE	SER	ClinVar chr11:2182059 rs80356668	Pathogenic	-	-	Hyperproinsulinemia [MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214]
	24_PHE	CYS	ClinVar chr11:2182059 rs80356668	Likely pathogenic/Likely risk allele	-	-	Permanent neonatal diabetes mellitus\|Diabetes mellitus, permanent neonatal 4\|Neonatal diabetes mellitus [MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885\|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858\|MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224]
	25_PHE	LEU	ClinVar chr11:2182055 rs148685531	Pathogenic	-	-	Hyperproinsulinemia [MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214]
	28_PRO	LEU	ClinVar chr11:2182047 rs145038693	Pathogenic	-	-	Maturity-onset diabetes of the young type 10 [MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552]
	28_PRO	ARG	ClinVar chr11:2182047 rs145038693	Likely pathogenic	-	-	Neonatal insulin-dependent diabetes mellitus [Human Phenotype Ontology:HP:0000857,MedGen:C3278636]

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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