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UniProtKB/Swiss-Prot Q99062: Variant p.Pro229His

Granulocyte colony-stimulating factor receptor
Gene: CSF3R
Variant information

Variant position:  229
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Proline (P) to Histidine (H) at position 229 (P229H, p.Pro229His).
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 medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Probable disease-associated mutation found in a patient with apparently autosomal dominant severe congenital neutropenia; affects CSF3 mediated proliferation and survival of myeloid cells; abrogates receptor signaling by altering ligand binding; dominant negative effect.
Any additional useful information about the variant.

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



Sequence information

Variant position:  229
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  836
The length of the canonical sequence.

Location on the sequence:   LGTSMSPQLCLDPMDVVKLE  P PMLRTMDPSPEAAPPQAGCL
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                         LGTSMSPQLCLDPMDVVKLEPPMLRTMDPSPEAAPPQAGCL

Mouse                         LGSSESPKLCLDPMDVVKLEPPMLQALDIGPDVVSHQPGCL

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 25 – 836 Granulocyte colony-stimulating factor receptor
Topological domain 25 – 627 Extracellular
Domain 125 – 230 Fibronectin type-III 1


Literature citations

Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.
Ward A.C.; van Aesch Y.M.; Gits J.; Schelen A.M.; de Koning J.P.; van Leeuwen D.; Freedman M.H.; Touw I.P.;
J. Exp. Med. 190:497-507(1999)
Cited for: INVOLVEMENT IN SEVERE CONGENITAL NEUTROPENIA; VARIANT HIS-229; CHARACTERIZATION OF VARIANT HIS-229;

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.