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UniProtKB/Swiss-Prot Q9Y6X0: Variant p.Gly870Arg

SET-binding protein
Gene: SETBP1
Variant information

Variant position:  870
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Arginine (R) at position 870 (G870R, p.Gly870Arg).
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 glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:23648668, ECO:0000269|PubMed:23889083}. Note=The gene represented in this entry is involved in disease pathogenesis.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In AML.
Any additional useful information about the variant.



Sequence information

Variant position:  870
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1596
The length of the canonical sequence.

Location on the sequence:   EITLSPVSESHSEETIPSDS  G IGTDNNSTSDQAEKSSESRR
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                         EITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSESRR

Mouse                         EITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSESRR

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.

TypePositionsDescription
Chain 1 – 1596 SET-binding protein
Alternative sequence 243 – 1596 Missing. In isoform 2.


Literature citations

Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.
Fernandez-Mercado M.; Pellagatti A.; Di Genua C.; Larrayoz M.J.; Winkelmann N.; Aranaz P.; Burns A.; Schuh A.; Calasanz M.J.; Cross N.C.; Boultwood J.;
Br. J. Haematol. 163:235-239(2013)
Cited for: VARIANT MDS ARG-873; VARIANTS AML ARG-870 AND SER-871;

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.