PDB ID 3DI2     CHAIN B
Protein name Interleukin-7 receptor subunit alpha
Uniprot Accession P16871
The number of similar proteins 8
The number of binding states 5
The number of binding partners 7

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
3DI2 (CHAIN: B)
1 P13232  
2 P16871  
3 7OPB  
4 6P50   6P50  
5 Q9HC73   Q969D9  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   GSHMESGYAQ   NGDLEDAELD   DYSFSCYSQL   EVNGSQHSLT   CAFEDPDVNT   50
51   TNLEFEICGA   LVEVKCLNFR   KLQEIYFIET   KKFLLIGKSN   ICVKVGEKSL   100
101   TCKKIDLTTI   VKPEAPFDLS   VVYREGANDF   VVTFNTSHLQ   KKYVKVLMHD   150
151   VAYRQEKDEN   KWTHVNLSST   KLTLLQRKLQ   PAAMYEIKVR   SIPDHYFKGF   200
201   WSEWSPSYYF   RTPEINNSSG   EMD       250

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
22_CYS TRP ClinVar
chr5:35860997 		rs1759788196
Pathogenic - Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
25_GLN HIS ClinVar
chr5:35861006 		rs200464578
Likely pathogenic - Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
31_SER LEU gnomAD
chr5:35861023 		rs138482569
- 0.000155284 -
31_SER LEU 8.3kJPN
chr5:35861023 		rs138482569
- 0.0005 -
40_GLU LYS 8.3kJPN
chr5:35861049 		rs772586152
- 0.0001 -
46_ILE THR gnomAD
chr5:35861068 		rs1494558
- 0.618323 -
46_ILE THR 8.3kJPN
chr5:35861068 		rs1494558
- 0.4185 -
49_LEU VAL ClinVar
chr5:35861076 		rs1580851879
Likely pathogenic - Multiple myeloma [Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443]
51_PHE SER ClinVar
chr5:35861083 		rs147423300
Likely pathogenic - not provided [MedGen:CN517202]
52_GLU TER ClinVar
chr5:35861085 		-
Pathogenic - Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
52_GLU GLN gnomAD
chr5:35861085 		rs148001159
- 0.000243009 -
56_ALA ASP 8.3kJPN
chr5:35867413 		rs755030275
- 0.0001 -
59_GLU TER ClinVar
chr5:35867421 		rs1354581284
Pathogenic - Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
60_VAL ALA gnomAD
chr5:35867425 		rs200475138
- 0.000549805 -
69_GLN TER ClinVar
chr5:35867451 		rs141698985
Likely pathogenic - Histiocytic medullary reticulosis|not provided|Immunodeficiency 104 [MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041|MedGen:C3661900|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
75_GLU LYS gnomAD
chr5:35867469 		rs191585195
- 0.000557871 -
85_SER ASN gnomAD
chr5:35867500 		rs150051812
- 0.000410502 -
85_SER CYS 8.3kJPN
chr5:35867499 		-
- 0.0001 -
85_SER ASN 8.3kJPN
chr5:35867500 		rs150051812
- 0.0012 -
91_VAL VAL ClinVar
chr5:35867519 		rs199641706
Pathogenic - Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
93_GLU ASP VAR_021287 rs11567735
LB/B - -
93_GLU ASP gnomAD
chr5:35867525 		rs11567735
- 0.00030703 -
98_CYS TYR ClinVar
chr5:35867539 		rs193922641
Pathogenic - Severe combined immunodeficiency disease|Immunodeficiency 104|not provided [Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971|MedGen:C3661900]
99_LYS TER ClinVar
chr5:35867541 		rs1448018291
Pathogenic - Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
106_ILE LEU gnomAD
chr5:35867562 		rs201207454
- 0.000108059 -
107_VAL ILE ClinVar
chr5:35867565 		rs1759969389
Pathogenic - Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
107_VAL ILE 8.3kJPN
chr5:35867565 		-
- 0.0001 -
112_PRO SER VAR_034870 rs104893894
LP/P - Immunodeficiency 104 (IMD104) [MIM:608971]
112_PRO SER ClinVar
chr5:35871172 		rs104893894
Pathogenic - Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
115_LEU PRO 8.3kJPN
chr5:35871182 		-
- 0.0001 -
118_VAL ILE VAR_021288 rs1494555
LB/B - -
118_VAL ILE gnomAD
chr5:35871190 		rs1494555
- 0.639473 -
118_VAL ILE 8.3kJPN
chr5:35871190 		rs1494555
- 0.4771 -
120_ARG TRP gnomAD
chr5:35871196 		rs773491081
- 0.000143321 -
120_ARG GLN gnomAD
chr5:35871197 		rs200373233
- 0.000354268 -
120_ARG TRP 8.3kJPN
chr5:35871196 		rs773491081
- 0.0003 -
123_ALA THR 8.3kJPN
chr5:35871205 		rs372676633
- 0.0002 -
124_ASN SER 8.3kJPN
chr5:35871209 		-
- 0.0001 -
128_VAL LEU gnomAD
chr5:35871220 		rs200332345
- 0.000314405 -
134_HIS TYR 8.3kJPN
chr5:35871238 		rs199727195
- 0.0026 -
136_GLN TER ClinVar
chr5:35871244 		-
Pathogenic - Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
148_ALA SER 8.3kJPN
chr5:35871280 		-
- 0.0001 -
150_ARG HIS gnomAD
chr5:35871287 		rs149161098
- 0.000270785 -
159_THR MET 8.3kJPN
chr5:35871314 		rs200751605
- 0.0006 -
165_SER CYS ClinVar
chr5:35873597 		rs1057519759
Likely pathogenic - Lymphoblastic leukemia, acute, with lymphomatous features [MONDO:MONDO:0009539,MedGen:C1855472,OMIM:247640,Orphanet:513]
172_GLN PRO 8.3kJPN
chr5:35873619 		-
- 0.0001 -
178_ALA THR 8.3kJPN
chr5:35873636 		-
- 0.0002 -
181_TYR CYS gnomAD
chr5:35873646 		rs145810271
- 0.000334773 -
186_ARG TER ClinVar
chr5:35873660 		rs201559094
Pathogenic - not provided|Immunodeficiency 104 [MedGen:C3661900|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
186_ARG TER 8.3kJPN
chr5:35873660 		rs201559094
- 0.0001 -
186_ARG GLN 8.3kJPN
chr5:35873661 		rs193922644
- 0.0001 -
192_TYR TER ClinVar
chr5:35873680 		rs786205572
Likely pathogenic - not provided [MedGen:C3661900]
195_GLY VAL ClinVar
chr5:35873688 		rs193922645
Likely pathogenic - Severe combined immunodeficiency disease|not provided|Immunodeficiency 104 [Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660|MedGen:C3661900|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
197_TRP TER ClinVar
chr5:35873695 		rs104893893
Pathogenic - Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
201_SER ILE ClinVar
chr5:35873706 		rs587778405
Pathogenic - not specified|not provided|Immunodeficiency 104|Severe combined immunodeficiency disease [MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971|Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660]
205_TYR TER ClinVar
chr5:35873719 		rs1390410878
Pathogenic - Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971]
209_PRO SER gnomAD
chr5:35873729 		rs774177784
- 0.000107625 -
(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.