UniProtKB/Swiss-Prot Q6N021: Variant p.His1881Arg

Methylcytosine dioxygenase TET2
Gene: TET2
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Variant information Variant position:

1881 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 Histidine (H) to Arginine (R) at position 1881 (H1881R, p.His1881Arg). 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 (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 a myeloproliferative disorder; somatic mutation; also in a patient with systemic mastocytosis associated with chronic myelomonocytic leukemia. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1417392445 [ dbSNP | Ensembl ]

Sequence information Variant position:

1881 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:

GVAVAPTHGSILIECAKREL H ATTPLKNPNRNHPTRISLVF 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                         GVAVAPTHGSILIECAKRELHATTPLKNPNRNHPTRISLVF

Mouse                         GVAIAPTHGSILIECAKCEVHATTKVNDPDRNHPTRISLVL

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.
Beta strand	1881 – 1883

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; Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates.
Tefferi A.; Levine R.L.; Lim K.H.; Abdel-Wahab O.; Lasho T.L.; Patel J.; Finke C.M.; Mullally A.; Li C.Y.; Pardanani A.; Gilliland D.G.;
Leukemia 23:900-904(2009)
Cited for: INVOLVEMENT IN SYSTEMIC MASTOCYTOSIS; VARIANT ARG-1881;

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.