UniProtKB/Swiss-Prot Q9Y6X0: Variant p.Asp868Asn

SET-binding protein
Gene: SETBP1
Chromosomal location: 18q21.1
Variant information

Variant position:  868
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Aspartate (D) to Asparagine (N) at position 868 (D868N, p.Asp868Asn).
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 acidic (D) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation.
Any additional useful information about the variant.



Sequence information

Variant position:  868
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:   LKEITLSPVSESHSEETIPS  D SGIGTDNNSTSDQAEKSSES
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                         LKEITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSES

Mouse                         LKEITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSES

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

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Hoischen A.; van Bon B.W.; Gilissen C.; Arts P.; van Lier B.; Steehouwer M.; de Vries P.; de Reuver R.; Wieskamp N.; Mortier G.; Devriendt K.; Amorim M.Z.; Revencu N.; Kidd A.; Barbosa M.; Turner A.; Smith J.; Oley C.; Henderson A.; Hayes I.M.; Thompson E.M.; Brunner H.G.; de Vries B.B.; Veltman J.A.;
Nat. Genet. 42:483-485(2010)
Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871;

SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.
Meggendorfer M.; Bacher U.; Alpermann T.; Haferlach C.; Kern W.; Gambacorti-Passerini C.; Haferlach T.; Schnittger S.;
Leukemia 27:1852-1860(2013)
Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908;

SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.
Thol F.; Suchanek K.J.; Koenecke C.; Stadler M.; Platzbecker U.; Thiede C.; Schroeder T.; Kobbe G.; Kade S.; Loffeld P.; Banihosseini S.; Bug G.; Ottmann O.; Hofmann W.K.; Krauter J.; Kroger N.; Ganser A.; Heuser M.;
Leukemia 27:2072-2075(2013)
Cited for: VARIANTS AML ALA-854 AND SER-870; VARIANTS MDS ASN-868; ASN-869 AND SER-870;

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.
Piazza R.; Valletta S.; Winkelmann N.; Redaelli S.; Spinelli R.; Pirola A.; Antolini L.; Mologni L.; Donadoni C.; Papaemmanuil E.; Schnittger S.; Kim D.W.; Boultwood J.; Rossi F.; Gaipa G.; De Martini G.P.; di Celle P.F.; Jang H.G.; Fantin V.; Bignell G.R.; Magistroni V.; Haferlach T.; Pogliani E.M.; Campbell P.J.; Chase A.J.; Tapper W.J.; Cross N.C.; Gambacorti-Passerini C.;
Nat. Genet. 45:18-24(2013)
Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871; VARIANTS HIS-1321 AND LEU-1377; CHARACTERIZATION OF VARIANT ACML SER-870;

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
Sakaguchi H.; Okuno Y.; Muramatsu H.; Yoshida K.; Shiraishi Y.; Takahashi M.; Kon A.; Sanada M.; Chiba K.; Tanaka H.; Makishima H.; Wang X.; Xu Y.; Doisaki S.; Hama A.; Nakanishi K.; Takahashi Y.; Yoshida N.; Maciejewski J.P.; Miyano S.; Ogawa S.; Kojima S.;
Nat. Genet. 45:937-941(2013)
Cited for: VARIANT JMML ASN-868;

Somatic SETBP1 mutations in myeloid malignancies.
Makishima H.; Yoshida K.; Nguyen N.; Przychodzen B.; Sanada M.; Okuno Y.; Ng K.P.; Gudmundsson K.O.; Vishwakarma B.A.; Jerez A.; Gomez-Segui I.; Takahashi M.; Shiraishi Y.; Nagata Y.; Guinta K.; Mori H.; Sekeres M.A.; Chiba K.; Tanaka H.; Muramatsu H.; Sakaguchi H.; Paquette R.L.; McDevitt M.A.; Kojima S.; Saunthararajah Y.; Miyano S.; Shih L.Y.; Du Y.; Ogawa S.; Maciejewski J.P.;
Nat. Genet. 45:942-946(2013)
Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880; TISSUE SPECIFICITY;

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.