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UniProtKB/Swiss-Prot P07333: Variant p.Pro824Ser

Macrophage colony-stimulating factor 1 receptor
Gene: CSF1R
Variant information

Variant position:  824
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Proline (P) to Serine (S) at position 824 (P824S, p.Pro824Ser).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and hydrophobic (P) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In HDLS; impairs autophosphorylation upon stimulation with CSF1.
Any additional useful information about the variant.



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                         MNDSNYIVKGNARLPVKWMAPESIFDCVYTVQSDVWSYGIL

Mouse                         MNDSNYVVKGNARLPVKWMAPESIFDCVYTVQSDVWSYGIL

Rat                           MNDSNYVVKGNARLPVKWMAPESILYCVYTVQSDVWSYGIL

Cat                           MNDSNYIVKGNARLPVKWMAPESIFDCVYTVQSDVWSYGIL

Zebrafish                     MNDSNYVVKGNARLPVKWMAPESIFECVYTVQSDVWSYGIM

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.

TypePositionsDescription
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.