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 LKEITLSPVSESHSEETIPSD SGIGTDNNSTSDQAEKSSES
Mouse LKEITLSPVSESHSEETIPSD SGIGTDNNSTSDQAEKSSES
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
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.