UniProtKB/Swiss-Prot O14798: Variant p.Ile229Thr

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 229 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 Isoleucine (I) to Threonine (T) at position 229 (I229T, p.Ile229Thr). 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 hydrophobic (I) to medium size and polar (T) 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 rs9644063 [ dbSNP | Ensembl ]

Sequence information

Variant position: 229 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 259 The length of the canonical sequence.
Location on the sequence: AEETMTTSPGTPAPAAEETM I TSPGTPASSHYLSCTIVGII 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.
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	26 – 236	Tumor necrosis factor receptor superfamily member 10C
Repeat	222 – 236	TAPE 5
Lipidation	236 – 236	GPI-anchor amidated alanine

Literature citations

Identification and molecular cloning of two novel receptors for the cytotoxic ligand TRAIL.
MacFarlane M.; Ahmad M.; Srinivasula S.M.; Fernandes-Alnemri T.; Cohen G.M.; Alnemri E.S.;
J. Biol. Chem. 272:25417-25420(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-229; Cloning and characterization of TRAIL-R3, a novel member of the emerging TRAIL receptor family.
Degli-Esposti M.A.; Smolak P.J.; Walczak H.; Waugh J.; Huang C.-P.; DuBose R.F.; Goodwin R.G.; Smith C.A.;
J. Exp. Med. 186:1165-1170(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; CHARACTERIZATION; VARIANT THR-229; An antagonist decoy receptor and a death domain-containing receptor for TRAIL.
Pan G.; Ni J.; Wei Y.-F.; Yu G.-L.; Gentz R.; Dixit V.M.;
Science 277:815-818(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-229; Control of TRAIL-induced apoptosis by a family of signaling and decoy receptors.
Sheridan J.P.; Marsters S.A.; Pitti R.M.; Gurney A.; Skubatch M.; Baldwin D.T.; Ramakrishnan L.; Gray C.L.; Baker K.; Wood W.I.; Goddard A.D.; Godowski P.J.; Ashkenazi A.;
Science 277:818-821(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEIN SEQUENCE OF N-TERMINUS; VARIANT THR-229; Characterization of two receptors for TRAIL.
Schneider P.; Bodmer J.-L.; Thome M.; Hofmann K.; Holler N.; Tschopp J.;
FEBS Lett. 416:329-334(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; CHARACTERIZATION; VARIANT THR-229; Lymphocyte inhibitor of TRAIL (TNF-related apoptosis-inducing ligand): a new receptor protecting lymphocytes from the death ligand TRAIL.
Mongkolsapaya J.; Cowper A.E.; Xu X.-N.; Morris G.; McMichael A.J.; Bell J.I.; Screaton G.R.;
J. Immunol. 160:3-6(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-229; The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
Clark H.F.; Gurney A.L.; Abaya E.; Baker K.; Baldwin D.T.; Brush J.; Chen J.; Chow B.; Chui C.; Crowley C.; Currell B.; Deuel B.; Dowd P.; Eaton D.; Foster J.S.; Grimaldi C.; Gu Q.; Hass P.E.; Heldens S.; Huang A.; Kim H.S.; Klimowski L.; Jin Y.; Johnson S.; Lee J.; Lewis L.; Liao D.; Mark M.R.; Robbie E.; Sanchez C.; Schoenfeld J.; Seshagiri S.; Simmons L.; Singh J.; Smith V.; Stinson J.; Vagts A.; Vandlen R.L.; Watanabe C.; Wieand D.; Woods K.; Xie M.-H.; Yansura D.G.; Yi S.; Yu G.; Yuan J.; Zhang M.; Zhang Z.; Goddard A.D.; Wood W.I.; Godowski P.J.; Gray A.M.;
Genome Res. 13:2265-2270(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT THR-229; 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]; VARIANT THR-229;