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:
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 EITLSPVSESHSEETIPSDS GIGTDNNSTSDQAEKSSESRR
Mouse EITLSPVSESHSEETIPSDS GIGTDNNSTSDQAEKSSESRR
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
1 – 1596 SET-binding protein
243 – 1596 Missing. In isoform 2.
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.;
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;
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.