Variant position: 781 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 QVAQGMAFLASKNCIHRDVA ARNVLLTNGHVAKIGDFGLAR
Mouse QVAQGMAFLASKNCIHRDVA ARNVLLTSGHVAKIGDFGLAR
Rat QVAQGMAFLASKNCIHRDVA ARNVLLTSGHVAKIGDFGLAR
Cat QVAQGMAFLASKNCIHRDVA ARNVLLTSGRVAKIGDFGLAR
Zebrafish QVAQGLDFLAAKNCIHRDVA ARNVLLTNSRVAKICDFGLAR
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.
781 – 783
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.
Konno T.; Tada M.; Tada M.; Koyama A.; Nozaki H.; Harigaya Y.; Nishimiya J.; Matsunaga A.; Yoshikura N.; Ishihara K.; Arakawa M.; Isami A.; Okazaki K.; Yokoo H.; Itoh K.; Yoneda M.; Kawamura M.; Inuzuka T.; Takahashi H.; Nishizawa M.; Onodera O.; Kakita A.; Ikeuchi T.;
Cited for: VARIANTS HDLS ASP-765; GLU-781; THR-794 AND SER-824; CHARACTERIZATION OF VARIANTS HDLS ASP-765; GLU-781; THR-794 AND SER-824; AUTOPHOSPHORYLATION;
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.