Variant position: 906 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 YSIMQACWALEPTHRPTFQQ ICSFLQE---QAQEDRRERDYTNL
Mouse YSIMQSCWDLEPTRRPTFQQ ICFLLQE---QARLERRDQDY
Rat YSIMQSCWDLEPTRRPTFQQ ICFLLQE---QARLERRDQDY
Cat YSIMQACWALEPTRRPTFQQ ICSLLQK---QAQEDRRVPNY
Zebrafish YTIMKMCWNLDAAERPTFSK ISQMIQRMLGETSEQQDTQEY
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
923 – 923 Phosphotyrosine; by autocatalysis
307 – 972 Missing. In isoform 2.
903 – 915
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;
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