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UniProtKB/Swiss-Prot P07333: Variant p.Arg782His

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

Variant position:  782
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 Arginine (R) to Histidine (H) at position 782 (R782H, p.Arg782His).
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 large size and basic (R) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  782
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:   VAQGMAFLASKNCIHRDVAA  R NVLLTNGHVAKIGDFGLARD
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                         VAQGMAFLASKNCIHRDVAARNVLLTNGHVAKIGDFGLARD

Mouse                         VAQGMAFLASKNCIHRDVAARNVLLTSGHVAKIGDFGLARD

Rat                           VAQGMAFLASKNCIHRDVAARNVLLTSGHVAKIGDFGLARD

Cat                           VAQGMAFLASKNCIHRDVAARNVLLTSGRVAKIGDFGLARD

Zebrafish                     VAQGLDFLAAKNCIHRDVAARNVLLTNSRVAKICDFGLARD

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
Active site 778 – 778 Proton acceptor
Alternative sequence 307 – 972 Missing. In isoform 2.
Mutagenesis 802 – 802 D -> V. Constitutive kinase activity. Loss of inhibition by imatinib.
Helix 781 – 783


Literature citations

CSF1R mutations link POLD and HDLS as a single disease entity.
Nicholson A.M.; Baker M.C.; Finch N.A.; Rutherford N.J.; Wider C.; Graff-Radford N.R.; Nelson P.T.; Clark H.B.; Wszolek Z.K.; Dickson D.W.; Knopman D.S.; Rademakers R.;
Neurology 80:1033-1040(2013)
Cited for: VARIANTS HDLS THR-766 AND HIS-782; CHARACTERIZATION OF VARIANTS HDLS HIS-782 AND THR-875; 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.