Sequence information
Variant position: 653 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:
ELKIMSHLGQHENIVNLLGA
C THGGPVLVITEYCCYGDLLN
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 ELKIMSHLGQHENIVNLLGAC THGGPVLVITEYCCYGDLLN
Mouse ELKIMSHLGQHENIVNLLGAC THGGPVLVITEYCCYGDLLN
Rat ELKIMSHLGQHENIVNLLGAC THGGPVLVITEYCCYGDLLN
Cat ELKIMSHLGQHENIVNLLGAC THGGPVLVITEYCCYGDLLN
Zebrafish ELKILSHLGQHKNIVNLLGAC THGGPVLVITEYCCHGDLLN
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
Alternative sequence
307 – 972
Missing. In isoform 2.
Beta strand
649 – 653
Literature citations
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.
Battisti C.; Di Donato I.; Bianchi S.; Monti L.; Formichi P.; Rufa A.; Taglia I.; Cerase A.; Dotti M.T.; Federico A.;
J. Neurol. 261:768-772(2014)
Cited for: VARIANTS HDLS ARG-653; PHE-843 AND THR-906;
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.