Variant position: 487 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 508 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 DYSSGDSQGAQGGLSDGPYS NPYENSLIPAAEPLPPSYVAC
Mouse DYSSGGSQGVHGDSSDGPYS HPYENSLVPDSEPLHPGYVAC
Rat DYSSGGSQGVHGDSSDGPYS HPYENSLVPDTEPLRPSYVAC
Pig DYSSGGSQETQGGSSSGPYS NPYENSLVPAPEPSPPNYVTC
Xenopus laevis -----------GEHSPPPSP NFYQNS--PITNFLAPIYSQS
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
25 – 508 Erythropoietin receptor
274 – 508 Cytoplasmic
485 – 485 Required for CrkL binding
468 – 468 Phosphotyrosine; by JAK2
485 – 485 Phosphotyrosine; by JAK2
489 – 489 Phosphotyrosine; by JAK2
504 – 504 Phosphotyrosine; by JAK2
242 – 508 Missing. In isoform EPOR-S.
329 – 508 Missing. In isoform EPOR-T.
468 – 468 Y -> F. No effect on STAT1/STAT3 nor STAT5 activity.
Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies.
Le Couedic J.-P.; Mitjavila M.-T.; Villeval J.-L.; Feger F.; Gobert S.; Mayeux P.; Casadevall N.; Vainchenker W.;
Cited for: VARIANT ECYT1 SER-487; VARIANT ERYTHROLEUKEMIA SER-487;
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