UniProtKB/SwissProt variant VAR

Variant information

Variant position:

843

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 Isoleucine (I) to Phenylalanine (F) at position 843 (I843F, p.Ile843Phe).

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 (I) to large size and aromatic (F)

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.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs690016558 [ dbSNP | Ensembl ]

Sequence information

Variant position:

843

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:

APESIFDCVYTVQSDVWSYG I LLWEIFSLGLNPYPGILVNS

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                         APESIFDCVYTVQSDVWSYGILLWEIFSLGLNPYPGILVNS

Mouse                         APESIFDCVYTVQSDVWSYGILLWEIFSLGLNPYPGILVNN

Rat                           APESILYCVYTVQSDVWSYGILLWEIFSLGLNPYPGILVNN

Cat                           APESIFDCVYTVQSDVWSYGILLWEIFSLGLNPYPGILVNS

Zebrafish                     APESIFECVYTVQSDVWSYGIMLWEIFSLGKSPYPNILVDS

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.
Helix	834 – 849

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07333: Variant p.Ile843Phe