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UniProtKB/Swiss-Prot P09619: Variant p.Pro584Arg

Platelet-derived growth factor receptor beta
Gene: PDGFRB
Variant information

Variant position:  584
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 Arginine (R) at position 584 (P584R, p.Pro584Arg).
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 large size and basic (R)
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

Involvement in disease:  Kosaki overgrowth syndrome (KOGS) [MIM:616592]: A syndrome characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, and progressive neurologic deterioration with white matter lesions on brain imaging. {ECO:0000269|PubMed:25454926}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In KOGS.
Any additional useful information about the variant.

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



Sequence information

Variant position:  584
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1106
The length of the canonical sequence.

Location on the sequence:   IRWKVIESVSSDGHEYIYVD  P MQLPYDSTWELPRDQLVLGR
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                         IRWKVIESVSSDGHEYIYVDPMQLPYDSTWELPRDQLVLGR

                              IRWKVIESVSSDGHEYIYVDPMQLPYDSTWELPRDQLVLGR

Mouse                         IRWKVIESVSSDGHEYIYVDPVQLPYDSTWELPRDQLVLGR

Rat                           IRWKVIESVSSDGHEYIYVDPVQLPYDSTWELPRDQLVLGR

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 33 – 1106 Platelet-derived growth factor receptor beta
Topological domain 554 – 1106 Cytoplasmic
Modified residue 579 – 579 Phosphotyrosine; by autocatalysis
Modified residue 581 – 581 Phosphotyrosine; by autocatalysis
Alternative sequence 337 – 1106 Missing. In isoform 2.
Mutagenesis 579 – 579 Y -> F. Loss of kinase activity; when associated with F-581. Strongly reduces interaction with SRC family kinases. No effect on interaction with GRB10.
Mutagenesis 581 – 581 Y -> F. Loss of kinase activity; when associated with F-579. No effect on interaction with GRB10.


Literature citations

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.
Takenouchi T.; Yamaguchi Y.; Tanikawa A.; Kosaki R.; Okano H.; Kosaki K.;
J. Pediatr. 166:483-486(2015)
Cited for: INVOLVEMENT IN KOGS; VARIANT KOGS ARG-584;

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.