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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P09619: Variant p.Glu1071Val

Platelet-derived growth factor receptor beta
Gene: PDGFRB
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Variant information Variant position: help 1071 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glutamate (E) to Valine (V) at position 1071 (E1071V, p.Glu1071Val). 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: help Change from medium size and acidic (E) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In IBGC4; no effect on protein abundance; no effect on receptor activity; decreased PDGF signaling pathway. Any additional useful information about the variant.


Sequence information Variant position: help 1071 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1106 The length of the canonical sequence.
Location on the sequence: help EVNTSSTISCDSPLEPQDEP E PEPQLELQVEPEPELEQLPD 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         EVNTSSTISCDSPLEPQDEPEPEPQLELQVEPEPEL--EQLPD

                              EVNTSSTISCDSPLEPQEEPEPEP----EPQPEPQVVPEPP

Mouse                         EVNTSSTISCDSPLELQEEPQ-------QAEPEAQL--EQP

Rat                           EVNTSSTISCDSPLELQEEP--------QAEPEAQL--EQP
Sequence annotation in neighborhood: help 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
Region 1019 – 1106 Disordered
Compositional bias 1066 – 1080 Acidic residues
Alternative sequence 337 – 1106 Missing. In isoform 2.



Literature citations
Functional characterization of germline mutations in PDGFB and PDGFRB in primary familial brain calcification.
Vanlandewijck M.; Lebouvier T.; Andaloussi Maee M.; Nahar K.; Hornemann S.; Kenkel D.; Cunha S.I.; Lennartsson J.; Boss A.; Heldin C.H.; Keller A.; Betsholtz C.;
PLoS ONE 10:E0143407-E0143407(2015)
Cited for: CHARACTERIZATION OF VARIANTS IBGC4 PRO-658; TRP-987 AND VAL-1071; FUNCTION; Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Nicolas G.; Pottier C.; Charbonnier C.; Guyant-Marechal L.; Le Ber I.; Pariente J.; Labauge P.; Ayrignac X.; Defebvre L.; Maltete D.; Martinaud O.; Lefaucheur R.; Guillin O.; Wallon D.; Chaumette B.; Rondepierre P.; Derache N.; Fromager G.; Schaeffer S.; Krystkowiak P.; Verny C.; Jurici S.; Sauvee M.; Verin M.; Lebouvier T.; Rouaud O.; Thauvin-Robinet C.; Rousseau S.; Rovelet-Lecrux A.; Frebourg T.; Campion D.; Hannequin D.;
Brain 136:3395-3407(2013)
Cited for: VARIANTS IBGC4 PRO-658; TRP-987 AND VAL-1071;
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.