Variant position: 782 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 972 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 VAQGMAFLASKNCIHRDVAA RNVLLTNGHVAKIGDFGLARD
Mouse VAQGMAFLASKNCIHRDVAA RNVLLTSGHVAKIGDFGLARD
Rat VAQGMAFLASKNCIHRDVAA RNVLLTSGHVAKIGDFGLARD
Cat VAQGMAFLASKNCIHRDVAA RNVLLTSGRVAKIGDFGLARD
Zebrafish VAQGLDFLAAKNCIHRDVAA RNVLLTNSRVAKICDFGLARD
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
20 – 972 Macrophage colony-stimulating factor 1 receptor
539 – 972 Cytoplasmic
582 – 910 Protein kinase
778 – 778 Proton acceptor
307 – 972 Missing. In isoform 2.
802 – 802 D -> V. Constitutive kinase activity. Loss of inhibition by imatinib.
781 – 783
CSF1R mutations link POLD and HDLS as a single disease entity.
Nicholson A.M.; Baker M.C.; Finch N.A.; Rutherford N.J.; Wider C.; Graff-Radford N.R.; Nelson P.T.; Clark H.B.; Wszolek Z.K.; Dickson D.W.; Knopman D.S.; Rademakers R.;
Cited for: VARIANTS HDLS THR-766 AND HIS-782; CHARACTERIZATION OF VARIANTS HDLS HIS-782 AND THR-875; AUTOPHOSPHORYLATION;
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