Variant position: 794 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 CIHRDVAARNVLLTNGHVAK IGDFGLARDIMNDSNYIVKGN
Mouse CIHRDVAARNVLLTSGHVAK IGDFGLARDIMNDSNYVVKGN
Rat CIHRDVAARNVLLTSGHVAK IGDFGLARDIMNDSNYVVKGN
Cat CIHRDVAARNVLLTSGRVAK IGDFGLARDIMNDSNYIVKGN
Zebrafish CIHRDVAARNVLLTNSRVAK ICDFGLARDIMNDSNYVVKGN
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
809 – 809 Phosphotyrosine; by autocatalysis
307 – 972 Missing. In isoform 2.
802 – 802 D -> V. Constitutive kinase activity. Loss of inhibition by imatinib.
809 – 809 Y -> F. Reduced kinase activity. Reduced interaction with SRC, FYN and YES1.
791 – 794
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
Rademakers R.; Baker M.; Nicholson A.M.; Rutherford N.J.; Finch N.; Soto-Ortolaza A.; Lash J.; Wider C.; Wojtas A.; DeJesus-Hernandez M.; Adamson J.; Kouri N.; Sundal C.; Shuster E.A.; Aasly J.; MacKenzie J.; Roeber S.; Kretzschmar H.A.; Boeve B.F.; Knopman D.S.; Petersen R.C.; Cairns N.J.; Ghetti B.; Spina S.; Garbern J.; Tselis A.C.; Uitti R.; Das P.; Van Gerpen J.A.; Meschia J.F.; Levy S.; Broderick D.F.; Graff-Radford N.; Ross O.A.; Miller B.B.; Swerdlow R.H.; Dickson D.W.; Wszolek Z.K.;
Nat. Genet. 44:200-205(2012)
Cited for: VARIANTS HDLS 774-CYS--ASN-814 DEL; 585-GLY--LYS-619 DELINS ALA; GLU-589; LYS-633; THR-766; PRO-770; ASN-775; THR-794; TYR-837; SER-849; PHE-849 DEL; PRO-868; THR-875 AND THR-878; VARIANTS HIS-710; ARG-747 AND ASP-920; CHARACTERIZATION OF VARIANTS HDLS LYS-633; THR-766 AND THR-875;
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.