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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BYW2: Variant p.Lys2Arg

Histone-lysine N-methyltransferase SETD2
Gene: SETD2
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Variant information Variant position: help 2 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 Lysine (K) to Arginine (R) at position 2 (K2R, p.Lys2Arg). 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 Similar physico-chemical property. Both residues are large size and basic. 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 ALL; uncertain significance; somatic mutation. Any additional useful information about the variant.


Sequence information Variant position: help 2 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2564 The length of the canonical sequence.
Location on the sequence: help M K QLQPQPPPKMGDFYDPEHPT 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                         MKQLQPQ-PPPKMGDFYDPEHPT

Mouse                         MKPLPSQQPPPKMGDFYDPEHP

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 – 2564 Histone-lysine N-methyltransferase SETD2
Region 1 – 30 Disordered



Literature citations
Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.
Mar B.G.; Bullinger L.B.; McLean K.M.; Grauman P.V.; Harris M.H.; Stevenson K.; Neuberg D.S.; Sinha A.U.; Sallan S.E.; Silverman L.B.; Kung A.L.; Lo Nigro L.; Ebert B.L.; Armstrong S.A.;
Nat. Commun. 5:3469-3469(2014)
Cited for: INVOLVEMENT IN ALL; VARIANTS ALL ARG-2; GLY-19; ILE-267; PRO-470; ALA-499; 794-TYR--GLU-2564 DEL; PRO-1076; GLY-1093; ALA-1171; GLY-1351; GLU-1365; 1416-GLU--GLU-2564 DEL; ASN-1453; PRO-1609; MET-1663; PRO-1821; ALA-1915; VAL-1920; SER-2361 AND 2546-LYS--GLU-2564 DEL; Solution structure of the Set2-Rpb1 interacting domain of human Set2 and its interaction with the hyperphosphorylated C-terminal domain of Rpb1.
Li M.; Phatnani H.P.; Guan Z.; Sage H.; Greenleaf A.L.; Zhou P.;
Proc. Natl. Acad. Sci. U.S.A. 102:17636-17641(2005)
Cited for: STRUCTURE BY NMR OF 2457-2564; INTERACTION WITH POLR2A; MUTAGENESIS OF ARG-2475; LYS-2476; GLN-2480; PHE-2481; VAL-2483; LYS-2506; ARG-2510; HIS-2514; GLY-2515; GLU-2528 AND GLU-2531; CHARACTERIZATION OF VARIANT AML LEU-2505;
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.