Sequence information
Variant position: 824 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:
MNDSNYIVKGNARLPVKWMA
P ESIFDCVYTVQSDVWSYGIL
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 MNDSNYIVKGNARLPVKWMAP ESIFDCVYTVQSDVWSYGIL
Mouse MNDSNYVVKGNARLPVKWMAP ESIFDCVYTVQSDVWSYGIL
Rat MNDSNYVVKGNARLPVKWMAP ESILYCVYTVQSDVWSYGIL
Cat MNDSNYIVKGNARLPVKWMAP ESIFDCVYTVQSDVWSYGIL
Zebrafish MNDSNYVVKGNARLPVKWMAP ESIFECVYTVQSDVWSYGIM
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
20 – 972
Macrophage colony-stimulating factor 1 receptor
Topological domain
539 – 972
Cytoplasmic
Domain
582 – 910
Protein kinase
Modified residue
809 – 809
Phosphotyrosine; by autocatalysis
Alternative sequence
307 – 972
Missing. In isoform 2.
Mutagenesis
809 – 809
Y -> F. Reduced kinase activity. Reduced interaction with SRC, FYN and YES1.
Helix
824 – 829
Literature citations
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.;
Neurology 82:139-148(2014)
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;
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.