UniProtKB/Swiss-Prot Q6N021 : Variant p.Ile1873Thr
Methylcytosine dioxygenase TET2
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Variant information
Variant position:
1873
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
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:
1873 (I1873T, p.Ile1873Thr).
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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).following page
Variant description:
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
1873
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
2002
The length of the canonical sequence.
Location on the sequence:
I ECAKRELHATTPLKNPNRNH
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 SFLDPDIGGVAVAPTHGSILI ECAKRELHATTPLKNPNRNH
Mouse NFQDPCIGGVAIAPTHGSILI ECAKCEVHATTKVNDPDRNH
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
1 – 2002 Methylcytosine dioxygenase TET2
Binding site
1881 – 1881
Alternative sequence
1166 – 2002 Missing. In isoform 2.
Alternative sequence
1195 – 2002 Missing. In isoform 3.
Literature citations
Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies.
Abdel-Wahab O.; Mullally A.; Hedvat C.; Garcia-Manero G.; Patel J.; Wadleigh M.; Malinge S.; Yao J.; Kilpivaara O.; Bhat R.; Huberman K.; Thomas S.; Dolgalev I.; Heguy A.; Paietta E.; Le Beau M.M.; Beran M.; Tallman M.S.; Ebert B.L.; Kantarjian H.M.; Stone R.M.; Gilliland D.G.; Crispino J.D.; Levine R.L.;
Blood 114:144-147(2009)
Cited for: INVOLVEMENT IN MYELOID MALIGNANCIES; VARIANTS PHE-34; ASN-145; HIS-174; SER-312; PHE-460; GLY-666; HIS-867; SER-941; VAL-1073; PRO-1084; TYR-1135; CYS-1204; TRP-1214; VAL-1242; SER-1245; CYS-1261; HIS-1261; PHE-1417; LEU-1718; SER-1723; ASP-1757; ARG-1811; LEU-1828; THR-1873; ARG-1881; ALA-1900; VAL-1919; HIS-1926; SER-1941; HIS-1966; MET-1974 AND LYS-2000;
Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms.
Jankowska A.M.; Szpurka H.; Tiu R.V.; Makishima H.; Afable M.; Huh J.; O'Keefe C.L.; Ganetzky R.; McDevitt M.A.; Maciejewski J.P.;
Blood 113:6403-6410(2009)
Cited for: INVOLVEMENT IN MDS; INVOLVEMENT IN MYELOPROLIFERATIVE DISORDERS; VARIANTS THR-308; LEU-399; THR-817; HIS-867; PRO-1084; THR-1167; LEU-1287; ASN-1299; GLY-1302; GLY-1318; LEU-1718; THR-1873 AND ASP-1913;
TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis.
Tefferi A.; Pardanani A.; Lim K.H.; Abdel-Wahab O.; Lasho T.L.; Patel J.; Gangat N.; Finke C.M.; Schwager S.; Mullally A.; Li C.-Y.; Hanson C.A.; Mesa R.; Bernard O.; Delhommeau F.; Vainchenker W.; Gilliland D.G.; Levine R.L.;
Leukemia 23:905-911(2009)
Cited for: INVOLVEMENT IN MYELOPROLIFERATIVE DISORDERS; VARIANTS ARG-1242 AND THR-1873;
Acquired mutations in TET2 are common in myelodysplastic syndromes.
Langemeijer S.M.C.; Kuiper R.P.; Berends M.; Knops R.; Aslanyan M.G.; Massop M.; Stevens-Linders E.; van Hoogen P.; van Kessel A.G.; Raymakers R.A.P.; Kamping E.J.; Verhoef G.E.; Verburgh E.; Hagemeijer A.; Vandenberghe P.; de Witte T.; van der Reijden B.A.; Jansen J.H.;
Nat. Genet. 41:838-842(2009)
Cited for: INVOLVEMENT IN MDS; FUNCTION; TISSUE SPECIFICITY; VARIANTS ARG-29; PHE-34; HIS-123; MET-218; ASP-355; LEU-363; ARG-429; HIS-867; ARG-924; ARG-949; PRO-1084; TRP-1214; LEU-1261; PHE-1285 DEL; ARG-1291; TRP-1396; ARG-1398; ILE-1701; TRP-1721; SER-1723; VAL-1762; ARG-1778; THR-1873; ARG-1875; GLN-1881; SER-1896; 1911-LYS--LEU-1916 DEL; ASP-1913 AND LEU-1962;
Mutation in TET2 in myeloid cancers.
Delhommeau F.; Dupont S.; Della Valle V.; James C.; Trannoy S.; Masse A.; Kosmider O.; Le Couedic J.-P.; Robert F.; Alberdi A.; Lecluse Y.; Plo I.; Dreyfus F.J.; Marzac C.; Casadevall N.; Lacombe C.; Romana S.P.; Dessen P.; Soulier J.; Viguie F.; Fontenay M.; Vainchenker W.; Bernard O.A.;
N. Engl. J. Med. 360:2289-2301(2009)
Cited for: VARIANTS VAL-1175; 1237-PRO--SER-1239 DEL; GLU-1299; GLY-1302; TRP-1869; PRO-1872; THR-1873; MET-1896 AND PHE-1898;
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.
