Variant position: 987 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:
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 KKKYQQVDEEFLRSDHPAIL RSQARLPGFHGLRSPLDTSSV
Mouse KKKYQQVDEEFLRSDHPAIL RSQARFPGIHSLRSPLDTSSV
Rat KKKYQQVDEEFLRSDHPAIL RSQARLPGLHSLRSPLDTSSV
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.
Type Positions Description
33 – 1106 Platelet-derived growth factor receptor beta
554 – 1106 Cytoplasmic
970 – 970 Phosphotyrosine; by ABL1 and ABL2
337 – 1106 Missing. In isoform 2.
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
Nicolas G.; Pottier C.; Maltete D.; Coutant S.; Rovelet-Lecrux A.; Legallic S.; Rousseau S.; Vaschalde Y.; Guyant-Marechal L.; Augustin J.; Martinaud O.; Defebvre L.; Krystkowiak P.; Pariente J.; Clanet M.; Labauge P.; Ayrignac X.; Lefaucheur R.; Le Ber I.; Frebourg T.; Hannequin D.; Campion D.;
Cited for: VARIANTS IBGC4 PRO-658 AND TRP-987;
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