Variant position: 561 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 LVVLTIISLIILIMLWQKKP RYEIRWKVIESVSSDGHEYIY
Mouse LVVLTVISLIILIMLWQKKP RYEIRWKVIESVSSDGHEYIY
Rat LVVLTVISLIILIMLWQRKP RYEIRWKVIESVSSDGHEYIY
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
562 – 562 Phosphotyrosine; by autocatalysis
579 – 579 Phosphotyrosine; by autocatalysis
581 – 581 Phosphotyrosine; by autocatalysis
337 – 1106 Missing. In isoform 2.
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.
581 – 581 Y -> F. Loss of kinase activity; when associated with F-579. No effect on interaction with GRB10.
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
Cheung Y.H.; Gayden T.; Campeau P.M.; Leduc C.A.; Russo D.; Nguyen V.H.; Guo J.; Qi M.; Guan Y.; Albrecht S.; Moroz B.; Eldin K.W.; Lu J.T.; Schwartzentruber J.; Malkin D.; Berghuis A.M.; Emil S.; Gibbs R.A.; Burk D.L.; Vanstone M.; Lee B.H.; Orchard D.; Boycott K.M.; Chung W.K.; Jabado N.;
Am. J. Hum. Genet. 92:996-1000(2013)
Cited for: VARIANT IMF1 CYS-561;
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