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UniProtKB/Swiss-Prot P16234: Variant p.Leu507Pro

Platelet-derived growth factor receptor alpha
Gene: PDGFRA
Chromosomal location: 4q11-q13
Variant information

Variant position:  507
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
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 Leucine (L) to Proline (P) at position 507 (L507P, p.Leu507Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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 a hypereosinophilic syndrome sample; does not lead to constitutive kinase activation.
Any additional useful information about the variant.



Sequence information

Variant position:  507
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1089
The length of the canonical sequence.

Location on the sequence:   RVTFAKVEETIAVRCLAKNL  L GAENRELKLVAPTLRSELTV
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                         RVTFAKVEETIAVRCLAKNLLGAENRELKLVAPTLRSELTV

Mouse                         RVSFAKVEETIAVRCLAKNNLSVVARELKLVAPTLRSELTV

Rat                           RVSFAKVEETIAVRCLAKNDLGIGNRELKLVAPSLRSELTV

Chicken                       QVTFQKVEETLAVRCVARNDLGAVTRELKLVAPTLRSELTV

Xenopus laevis                QVTFKKIEETMAIRCIAKNELGVVARELKLVAPTLRSELTV

Zebrafish                     HIIFHHLEGTVAVRCLARNDMGVVSREVKLMSSGPHSELTV

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 24 – 1089 Platelet-derived growth factor receptor alpha
Topological domain 24 – 528 Extracellular
Domain 414 – 517 Ig-like C2-type 5
Alternative sequence 219 – 1089 Missing. In isoform 2.


Literature citations

Novel imatinib-sensitive PDGFRA-activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease.
Elling C.; Erben P.; Walz C.; Frickenhaus M.; Schemionek M.; Stehling M.; Serve H.; Cross N.C.; Hochhaus A.; Hofmann W.K.; Berdel W.E.; Muller-Tidow C.; Reiter A.; Koschmieder S.;
Blood 117:2935-2943(2011)
Cited for: FUNCTION IN PHOSPHORYLATION OF STAT 5A AND/OR STAT5B; ROLE IN HYPEREOSINOPHILIC SYNDROME; VARIANTS GLY-481; PRO-507; MET-562; ARG-570; GLN-650; SER-659; PRO-705; GLY-748 AND SER-849; CHARACTERIZATION OF VARIANTS GLY-481; PRO-507; MET-562; ARG-570; GLN-650; SER-659; PRO-705; GLY-748 AND SER-849; ACTIVITY REGULATION;

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.