PDB ID 2ERJ CHAIN C
Protein name Cytokine receptor common gamma chain
Uniprot Accession P31785
The number of similar proteins 7
The number of binding states 4
The number of binding partners 5
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
Downdload
 Format:  
Molecule viewer
#binding
partners
  3
  2
  1
  0
Sequence information
1   GMLSLLNTTI   LTPNGNEDTT   ADFFLTTMPT   DSLSVSTLPL   PEVQCFVFNV   50
51   EYMNCTWQSS   SEPQPTNLTL   HYWYKNSDND   KVQKCSHYLF   SEEITSGCQL   100
101   QKKEIHLYQT   FVVQLQDPRE   PRRQATQMLK   LQNLVIPWAP   ENLTLHKLSE   150
151   SQLELNWNNR   FLNHCLEHLV   QYRTDWDHSW   TEQSVDYRHK   FSLPSVDGQK   200
201   RYTFRVRSRF   NPLCGSAQHW   SEWSHPIHWG   SNTSKENPRT   GHHHHHH   250
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
40_CYS TER ClinVar
chrX:70330830
rs111033619 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
40_CYS GLY VAR_002669 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
46_GLU LYS ClinVar
chrX:70330814
rs1057520644 Pathogenic/Likely pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]; not provided [MedGen:CN517202]
46_GLU GLY VAR_002670 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
62_ASN LYS VAR_002672 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
67_TYR CYS VAR_002673 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
68_TRP TER ClinVar
chrX:70330538
- Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
72_SER TER ClinVar
chrX:70330527
rs775704953 Pathogenic not provided [MedGen:CN517202]
83_TYR CYS ClinVar
chrX:70330494
rs193922347 Likely pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
87_GLU LYS VAR_020611 rs17875899 Polymorphism -
92_GLY ASP ClinVar
chrX:70330467
rs111033620 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
93_CYS ARG ClinVar
chrX:70330465
rs111033622 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
93_CYS TYR ClinVar
chrX:70330464
rs1556330755 Likely pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
93_CYS PHE VAR_002676 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
97_LYS TER ClinVar
chrX:70330453
rs137852507 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
101_HIS PRO VAR_002678 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
103_TYR ASN VAR_002679 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
109_GLN TER ClinVar
chrX:70330417
rs1131691652 Pathogenic not provided [MedGen:CN517202]
119_GLN TER ClinVar
chrX:70330387
rs1556330713 Pathogenic not provided [MedGen:CN517202]
122_GLN PRO VAR_002680 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
129_LEU PRO ClinVar
chrX:70330356
rs137852511 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
130_VAL ALA ClinVar
chrX:70330145
rs193922348 Pathogenic/Likely pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
131_ILE ASN ClinVar
chrX:70330142
rs111033621 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
132_PRO SER ClinVar
chrX:70330140
rs1064793153 Likely pathogenic not provided [MedGen:CN517202]
134_ALA VAL ClinVar
chrX:70330133
rs1057521062 Likely pathogenic not provided [MedGen:CN517202]
140_LEU HIS VAR_002683 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
150_LEU PRO VAR_002684 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
150_LEU GLN VAR_002685 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
152_TRP TER ClinVar
chrX:70330078
rs1556330568 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
160_CYS ARG VAR_002686 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
161_LEU SER VAR_002687 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
166_GLN TER ClinVar
chrX:70330038
rs1556330552 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
179_SER TER ClinVar
chrX:70329233
rs1556330286 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
199_PHE SER ClinVar
chrX:70329173
rs193922349 Likely pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
200_ARG CYS ClinVar
chrX:70329171
rs111033618 Pathogenic Combined immunodeficiency, X-linked [MedGen:C1706416,OMIM:312863]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
202_ARG TRP ClinVar
chrX:70329165
rs869320658 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]; not provided [MedGen:CN517202]
204_ARG HIS ClinVar
chrX:70329158
rs869320660 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]; not provided [MedGen:CN517202]
204_ARG CYS ClinVar
chrX:70329159
rs869320659 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]; not provided [MedGen:CN517202]
205_PHE CYS VAR_002692 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
208_LEU PRO VAR_002693 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
209_CYS TYR VAR_002694 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
210_GLY ARG VAR_002695 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
213_GLN TER ClinVar
chrX:70329132
rs1556330249 Pathogenic not provided [MedGen:CN517202]
215_TRP TER ClinVar
chrX:70329125
rs193922350 Likely pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
218_TRP ARG ClinVar
chrX:70329117
rs1057517950 Likely pathogenic not provided [MedGen:CN517202]
218_TRP TER ClinVar
chrX:70329115
rs1556330234 Pathogenic X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
218_TRP CYS VAR_002697 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
219_SER ILE VAR_002698 - Disease Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]