Sequence information
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:
DYSSGDSQGAQGGLSDGPYS
N PYENSLIPAAEPLPPSYVAC
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 DYSSGDSQGAQGGLSDGPYSN PYENSLIPAAEPLPPSYVAC
DYSSGGSQGAQGDSLNSPFLN PYENSLIPAPEPSPPGYVAC
Mouse DYSSGGSQGVHGDSSDGPYSH PYENSLVPDSEPLHPGYVAC
Rat DYSSGGSQGVHGDSSDGPYSH PYENSLVPDTEPLRPSYVAC
Pig DYSSGGSQETQGGSSSGPYSN PYENSLVPAPEPSPPNYVTC
Xenopus laevis -----------GEHSPPPSPN FYQNS--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
Chain
25 – 508
Erythropoietin receptor
Topological domain
274 – 508
Cytoplasmic
Site
485 – 485
Required for CrkL binding
Modified residue
468 – 468
Phosphotyrosine; by JAK2
Modified residue
485 – 485
Phosphotyrosine; by JAK2
Modified residue
489 – 489
Phosphotyrosine; by JAK2
Modified residue
504 – 504
Phosphotyrosine; by JAK2
Alternative sequence
242 – 508
Missing. In isoform EPOR-S.
Alternative sequence
329 – 508
Missing. In isoform EPOR-T.
Mutagenesis
468 – 468
Y -> F. No effect on STAT1/STAT3 nor STAT5 activity.
Literature citations
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.;
Blood 87:1502-1511(1996)
Cited for: VARIANT ECYT1 SER-487; VARIANT ERYTHROLEUKEMIA SER-487;
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.