UniProtKB/SwissProt variant VAR

Variant information

Variant position:

869

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

Type of variant:

LP/P [Disclaimer]

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:

From Serine (S) to Asparagine (N) at position 869 (S869N, p.Ser869Asn).

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 small size and polar (S) 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 MDS and myeloid malignancies.

Any additional useful information about the variant.

Sequence information

Variant position:

869

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:

KEITLSPVSESHSEETIPSD S GIGTDNNSTSDQAEKSSESR

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                         KEITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSESR

Mouse                         KEITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSESR

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.

Type	Positions	Description
Chain	1 – 1596	SET-binding protein
Region	854 – 889	Disordered
Compositional bias	854 – 882	Polar residues
Alternative sequence	243 – 1596	Missing. In isoform 2.

Literature citations

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;

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y6X0: Variant p.Ser869Asn