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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01127: Variant p.Leu119Pro

Platelet-derived growth factor subunit B
Gene: PDGFB
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Variant information Variant position: help 119 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 Leucine (L) to Proline (P) at position 119 (L119P, p.Leu119Pro). 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 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: help -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: help In IBGC5; loss of protein expression. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 241 The length of the canonical sequence.
Location on the sequence: help TRTEVFEISRRLIDRTNANF L VWPPCVEVQRCSGCCNNRNV 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                         TRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNV

                              TRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNV

Mouse                         TRTEVFQISRNLIDRTNANFLVWPPCVEVQRCSGCCNNRNV

Sheep                         TRTEVSEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNV

Cat                           TRTEVFEVSRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNV
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 82 – 190 Platelet-derived growth factor subunit B
Site 108 – 108 Involved in receptor binding
Site 111 – 111 Involved in receptor binding
Disulfide bond 97 – 141
Disulfide bond 124 – 124 Interchain
Disulfide bond 133 – 133 Interchain
Beta strand 118 – 121



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 IBGC5 ARG-9 AND PRO-119; FUNCTION; Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
Keller A.; Westenberger A.; Sobrido M.J.; Garcia-Murias M.; Domingo A.; Sears R.L.; Lemos R.R.; Ordonez-Ugalde A.; Nicolas G.; da Cunha J.E.; Rushing E.J.; Hugelshofer M.; Wurnig M.C.; Kaech A.; Reimann R.; Lohmann K.; Dobricic V.; Carracedo A.; Petrovic I.; Miyasaki J.M.; Abakumova I.; Mae M.A.; Raschperger E.; Zatz M.; Zschiedrich K.; Klepper J.; Spiteri E.; Prieto J.M.; Navas I.; Preuss M.; Dering C.; Jankovic M.; Paucar M.; Svenningsson P.; Saliminejad K.; Khorshid H.R.; Novakovic I.; Aguzzi A.; Boss A.; Le Ber I.; Defer G.; Hannequin D.; Kostic V.S.; Campion D.; Geschwind D.H.; Coppola G.; Betsholtz C.; Klein C.; Oliveira J.R.;
Nat. Genet. 45:1077-1082(2013)
Cited for: VARIANTS IBGC5 ARG-9 AND PRO-119;
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.