UniProtKB/Swiss-Prot P16871: Variant p.Ile138Val

Interleukin-7 receptor subunit alpha
Gene: IL7R
Chromosomal location: 5p13
Variant information

Variant position:  138
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Isoleucine (I) to Valine (V) at position 138 (I138V, p.Ile138Val).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  3
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 T(-)/B(+)/NK(+) SCID.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  138
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  459
The length of the canonical sequence.

Location on the sequence:   CKKIDLTTIVKPEAPFDLSV  I YREGANDFVVTFNTSHLQKK
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                         CKKIDLTTIVKPEAPFDLSVIYREGANDFVVTFNTSHLQKK

Mouse                         CKNMAINTIVKAEAPSDLKVVYRKEANDFLVTFNAPHLKKK

Horse                         CQKLNIVKRVKPEAPFDVKVIYREEANEFVVTFNTSHLQKK

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 21 – 459 Interleukin-7 receptor subunit alpha
Topological domain 21 – 239 Extracellular
Domain 131 – 231 Fibronectin type-III
Glycosylation 151 – 151 N-linked (GlcNAc...)
Beta strand 133 – 140


Literature citations

Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.
Puel A.; Ziegler S.F.; Buckley R.H.; Leonard W.J.;
Nat. Genet. 20:394-397(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS T(-)/B(+)/NK(+) SCID ILE-66 AND VAL-138; VARIANT ILE-244;

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS T(-)/B(+)/NK(+) SCID ILE-66 AND VAL-138; VARIANTS ASP-113 AND ILE-244;

The DNA sequence and comparative analysis of human chromosome 5.
Schmutz J.; Martin J.; Terry A.; Couronne O.; Grimwood J.; Lowry S.; Gordon L.A.; Scott D.; Xie G.; Huang W.; Hellsten U.; Tran-Gyamfi M.; She X.; Prabhakar S.; Aerts A.; Altherr M.; Bajorek E.; Black S.; Branscomb E.; Caoile C.; Challacombe J.F.; Chan Y.M.; Denys M.; Detter J.C.; Escobar J.; Flowers D.; Fotopulos D.; Glavina T.; Gomez M.; Gonzales E.; Goodstein D.; Grigoriev I.; Groza M.; Hammon N.; Hawkins T.; Haydu L.; Israni S.; Jett J.; Kadner K.; Kimball H.; Kobayashi A.; Lopez F.; Lou Y.; Martinez D.; Medina C.; Morgan J.; Nandkeshwar R.; Noonan J.P.; Pitluck S.; Pollard M.; Predki P.; Priest J.; Ramirez L.; Retterer J.; Rodriguez A.; Rogers S.; Salamov A.; Salazar A.; Thayer N.; Tice H.; Tsai M.; Ustaszewska A.; Vo N.; Wheeler J.; Wu K.; Yang J.; Dickson M.; Cheng J.-F.; Eichler E.E.; Olsen A.; Pennacchio L.A.; Rokhsar D.S.; Richardson P.; Lucas S.M.; Myers R.M.; Rubin E.M.;
Nature 431:268-274(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS T(-)/B(+)/NK(+) SCID ILE-66 AND VAL-138;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS T(-)/B(+)/NK(+) SCID ILE-66 AND VAL-138; VARIANT VAL-356;

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.