PiSITE

PDB ID	2ZVO	CHAIN	B
Protein name	NF-kappa-B essential modulator
Uniprot Accession	O88522
The number of similar proteins	12
The number of binding states	5
The number of binding partners	5

Coloring

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The number of binding partners

Group

Binding state	Binding partners
	2ZVO (CHAIN: B)
1	O88522 Q96C32 Q96C32
2	O88522
3	O88522 P62988
4	O88522 Q96EP0
5	O88522 2V4H 2V4H

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Only interaction residues

#binding
partners

	5
	4
	3
	2
	1
	0

Sequence information

1

GSGMQLEDLR

QQLQQAEEAL

VAKQELIDKL

KEEAAQHAIV

METVPVLKAQ

50

51

ADIYKADFQA

ERHAREKLVE

KKEYLQEQLE

QLQREFNKLK

VG

100

Variants

	Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
	281_ALA	GLY	ClinVar chrX:153791119 rs137853330	Pathogenic	-	-	Ectodermal dysplasia and immunodeficiency 1 [MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813]
	283_GLN	TER	ClinVar chrX:153791124 rs1156900338	Pathogenic	-	-	not provided [MedGen:CN517202]
	304_ASP	ASN	ClinVar chrX:153791792 rs179363867	Likely pathogenic	-	-	not provided\|Ectodermal dysplasia and immunodeficiency 1 [MedGen:CN517202\|MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813]
	305_PHE	LEU	ClinVar chrX:153791797 rs2148385082	Likely pathogenic	-	-	not provided [MedGen:C3661900]
	308_GLU	ALA	ClinVar chrX:153791805 rs137853331	Pathogenic	-	-	Immunodeficiency 33 [MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612]
	312_ARG	GLN	ClinVar chrX:153791817 rs137853332	Pathogenic	-	-	Immunodeficiency 33 [MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612]
	323_GLN	TER	ClinVar chrX:153791849 -	Likely pathogenic	-	-	not provided [MedGen:CN517202]

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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