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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BYW2: Variant p.Lys1654Gln

Histone-lysine N-methyltransferase SETD2
Gene: SETD2
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Variant information Variant position: help 1654 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 Glutamine (Q) at position 1654 (K1654Q, p.Lys1654Gln). 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 large size and basic (K) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Variant description: help In ALL; uncertain significance; somatic mutation. Any additional useful information about the variant.


Sequence information Variant position: help 1654 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 NCETQKWTVNGQLRVGFFTT K LVPSGSELTFDYQFQRYGKE 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                         NCETQKWTVNGQLRVGFFTTKLVPSGSELTFDYQFQRYGKE

Mouse                         NCETQKWTVNGQLRVGFFTTKLVPSGSELTFDYQFQRYGKE

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
Domain 1550 – 1667 SET
Region 1418 – 1714 Interaction with TUBA1A
Alternative sequence 1573 – 2564 Missing. In isoform 3.
Mutagenesis 1636 – 1636 E -> A. Increased methyltransferase activity.
Mutagenesis 1637 – 1637 T -> A. Increased methyltransferase activity.
Mutagenesis 1668 – 1668 F -> A. Strongly reduced methyltransferase activity.
Mutagenesis 1669 – 1669 Q -> A. Loss of methyltransferase activity.
Mutagenesis 1670 – 1670 R -> AVLIF. Impaired methyltransferase activity.
Mutagenesis 1670 – 1670 R -> PWKQ. Loss of methyltransferase activity.
Mutagenesis 1671 – 1671 Y -> A. Strongly reduced methyltransferase activity.
Beta strand 1645 – 1654



Literature citations
Identification of functional cooperative mutations of SETD2 in human acute leukemia.
Zhu X.; He F.; Zeng H.; Ling S.; Chen A.; Wang Y.; Yan X.; Wei W.; Pang Y.; Cheng H.; Hua C.; Zhang Y.; Yang X.; Lu X.; Cao L.; Hao L.; Dong L.; Zou W.; Wu J.; Li X.; Zheng S.; Yan J.; Zhou J.; Zhang L.; Mi S.; Wang X.; Zhang L.; Zou Y.; Chen Y.; Geng Z.; Wang J.; Zhou J.; Liu X.; Wang J.; Yuan W.; Huang G.; Cheng T.; Wang Q.F.;
Nat. Genet. 46:287-293(2014)
Cited for: INVOLVEMENT IN AML; INVOLVEMENT IN ALL; VARIANTS AML 70-ARG--GLU-2564 DEL; ASN-800; GLY-1397; SER-1804; TRP-2122; 2325-GLN--GLU-2564 DEL AND LEU-2505; VARIANTS ALL SER-226; ILE-761; ASN-1493; 1496-ARG--GLU-2564 DEL; GLN-1654; 2077-ARG--GLU-2564 DEL; ALA-2214 AND 2524-CYS--GLU-2564 DEL;
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.