UniProtKB/SwissProt variant VAR

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.

Variant rs281860281 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07333: Variant p.Arg782His