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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6N021: Variant p.Ser1898Phe

Methylcytosine dioxygenase TET2
Gene: TET2
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Variant information Variant position: help 1898 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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: help From Serine (S) to Phenylalanine (F) at position 1898 (S1898F, p.Ser1898Phe). 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: help Change from small size and polar (S) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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: help In a secondary acute myeloid leukemia sample; somatic mutation; loss of enzyme activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1898 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2002 The length of the canonical sequence.
Location on the sequence: help RELHATTPLKNPNRNHPTRI S LVFYQHKSMNEPKHGLALWE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         RELHATTPLKNPNRNHPTRISLVFYQHKSMNEPKHGLALWE

Mouse                         CEVHATTKVNDPDRNHPTRISLVLYRHKNLFLPKHCLALWE

Sequence annotation in neighborhood: help 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 1 – 2002 Methylcytosine dioxygenase TET2
Binding site 1881 – 1881
Binding site 1896 – 1898
Binding site 1912 – 1912
Alternative sequence 1166 – 2002 Missing. In isoform 2.
Alternative sequence 1195 – 2002 Missing. In isoform 3.
Mutagenesis 1902 – 1902 Y -> A. Loss of enzyme activity.
Mutagenesis 1904 – 1904 H -> R. Loss of enzyme activity.



Literature citations
Crystal structure of TET2-DNA complex: insight into TET-mediated 5mC oxidation.
Hu L.; Li Z.; Cheng J.; Rao Q.; Gong W.; Liu M.; Shi Y.G.; Zhu J.; Wang P.; Xu Y.;
Cell 155:1545-1555(2013)
Cited for: X-RAY CRYSTALLOGRAPHY (2.03 ANGSTROMS) OF 1129-1480 AND 1844-1936 IN COMPLEX WITH DNA; IRON; N-OXALYOLGLYCINE AND ZINC; CATALYTIC ACTIVITY; FUNCTION; CHARACTERIZATION OF VARIANTS ARG-1291; GLU-1299; MET-1896 AND PHE-1898; MUTAGENESIS OF ARG-1261; ARG-1262; SER-1290; 1291-TRP--ASN-1296; 1293-MET-TYR-1294; TYR-1295; SER-1303; HIS-1382; ASP-1384; ASN-1387; TYR-1902 AND HIS-1904; 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.