UniProtKB/Swiss-Prot P16871: Variant p.Thr244Ile

Interleukin-7 receptor subunit alpha
Gene: IL7R
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Variant information Variant position:

244 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Threonine (T) to Isoleucine (I) at position 244 (T244I, p.Thr244Ile). 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 medium size and polar (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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
Other resources:

Links to websites of interest for the variant.

Variant rs6897932 [ dbSNP | Ensembl ]

Sequence information Variant position:

244 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:

YYFRTPEINNSSGEMDPILL T ISILSFFSVALLVILACVLW 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                         YYFRTPEINNSSGEMDPILLTISILSFFSVALLVILACVLW

Mouse                         STFETPEPKN-QGGWDPVLPSVTILSLFSVFLLVILAHVLW

Horse                         SHFRTPE-NN-SGKMDPVLLIISIVSFFSVALMVILACVLW

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.

Type	Positions	Description
Chain	21 – 459	Interleukin-7 receptor subunit alpha
Transmembrane	240 – 264	Helical
Glycosylation	232 – 232	N-linked (GlcNAc...) asparagine
Glycosylation	233 – 233	N-linked (GlcNAc...) asparagine
Alternative sequence	237 – 459	EMDPILLTISILSFFSVALLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNPESFLDCQIHRVDDIQARDEVEGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPESFGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHVYQDLLLSLGTTNSTLPPPFSLQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ -> LSLSYGPVSPIIRRLWNIFVRNQEK. In isoform 4.
Alternative sequence	237 – 252	EMDPILLTISILSFFS -> LSLSYGPVSPIIRQEL. In isoform 2.

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); INVOLVEMENT IN IMD104; VARIANTS THR-66; ILE-138 AND ILE-244; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS THR-66; ASP-113; ILE-138 AND ILE-244; Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis.
Gregory S.G.; Schmidt S.; Seth P.; Oksenberg J.R.; Hart J.; Prokop A.; Caillier S.J.; Ban M.; Goris A.; Barcellos L.F.; Lincoln R.; McCauley J.L.; Sawcer S.J.; Compston D.A.; Dubois B.; Hauser S.L.; Garcia-Blanco M.A.; Pericak-Vance M.A.; Haines J.L.;
Nat. Genet. 39:1083-1091(2007)
Cited for: VARIANT ILE-244; ASSOCIATION WITH MS3;

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.