Home  |  Contact

UniProtKB/Swiss-Prot P31785: Variant p.Trp240Cys

Cytokine receptor common subunit gamma
Gene: IL2RG
Variant information

Variant position:  240
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Tryptophan (W) to Cysteine (C) at position 240 (W240C, p.Trp240Cys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and aromatic (W) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In XSCID.
Any additional useful information about the variant.



Sequence information

Variant position:  240
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  369
The length of the canonical sequence.

Location on the sequence:   TFRVRSRFNPLCGSAQHWSE  W SHPIHWGSNTSKENPFLFAL
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         TFRVRSRFNPLCGSAQHWSEWSHPIHWGSNTSKEN------PFLFAL

                              TFRVRSRYNPLCGSAQRWSEWSHPIHWGSNTSKEN------

Mouse                         TFRVRSRYNPICGSSQQWSKWSQPVHWGSHTVEEN------

Bovine                        TFRVRSRYNPLCGSAQHWSDWSYPIHWGSNTSKENIENPEN

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 23 – 369 Cytokine receptor common subunit gamma
Topological domain 23 – 262 Extracellular
Domain 156 – 253 Fibronectin type-III
Motif 237 – 241 WSXWS motif
Glycosylation 249 – 249 N-linked (GlcNAc...) asparagine


Literature citations

Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding.
Disanto J.P.; Dautry-Varsat A.; Certain S.; Fischer A.; de Saint Basile G.;
Eur. J. Immunol. 24:475-479(1994)
Cited for: VARIANTS XSCID PHE-115; CYS-240 AND ILE-241;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.