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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P19235: Variant p.Pro488Ser

Erythropoietin receptor
Gene: EPOR
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Variant information Variant position: help 488 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Proline (P) to Serine (S) at position 488 (P488S, p.Pro488Ser). 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 Change from medium size and hydrophobic (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 488 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 508 The length of the canonical sequence.
Location on the sequence: help YSSGDSQGAQGGLSDGPYSN P YENSLIPAAEPLPPSYVACS 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                         YSSGDSQGAQGGLSDGPYSNPYENSLIPAAEPLPPSYVACS

                              YSSGGSQGAQGDSLNSPFLNPYENSLIPAPEPSPPGYVACS

Mouse                         YSSGGSQGVHGDSSDGPYSHPYENSLVPDSEPLHPGYVACS

Rat                           YSSGGSQGVHGDSSDGPYSHPYENSLVPDTEPLRPSYVACS

Pig                           YSSGGSQETQGGSSSGPYSNPYENSLVPAPEPSPPNYVTCS

Xenopus laevis                ----------GEHSPPPSPNFYQNS--PITNFLAPIYSQS-

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 25 – 508 Erythropoietin receptor
Topological domain 274 – 508 Cytoplasmic
Region 467 – 494 Disordered
Compositional bias 467 – 488 Polar residues
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
Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia.
Sokol L.; Prchal J.F.; D'Andrea A.; Rado T.A.; Prchal J.T.;
Exp. Hematol. 22:447-453(1994)
Cited for: VARIANT SER-488; Analysis of protein-coding genetic variation in 60,706 humans.
Lek M.; Karczewski K.J.; Minikel E.V.; Samocha K.E.; Banks E.; Fennell T.; O'Donnell-Luria A.H.; Ware J.S.; Hill A.J.; Cummings B.B.; Tukiainen T.; Birnbaum D.P.; Kosmicki J.A.; Duncan L.E.; Estrada K.; Zhao F.; Zou J.; Pierce-Hoffman E.; Berghout J.; Cooper D.N.; Deflaux N.; DePristo M.; Do R.; Flannick J.; Fromer M.; Gauthier L.; Goldstein J.; Gupta N.; Howrigan D.; Kiezun A.; Kurki M.I.; Moonshine A.L.; Natarajan P.; Orozco L.; Peloso G.M.; Poplin R.; Rivas M.A.; Ruano-Rubio V.; Rose S.A.; Ruderfer D.M.; Shakir K.; Stenson P.D.; Stevens C.; Thomas B.P.; Tiao G.; Tusie-Luna M.T.; Weisburd B.; Won H.H.; Yu D.; Altshuler D.M.; Ardissino D.; Boehnke M.; Danesh J.; Donnelly S.; Elosua R.; Florez J.C.; Gabriel S.B.; Getz G.; Glatt S.J.; Hultman C.M.; Kathiresan S.; Laakso M.; McCarroll S.; McCarthy M.I.; McGovern D.; McPherson R.; Neale B.M.; Palotie A.; Purcell S.M.; Saleheen D.; Scharf J.M.; Sklar P.; Sullivan P.F.; Tuomilehto J.; Tsuang M.T.; Watkins H.C.; Wilson J.G.; Daly M.J.; MacArthur D.G.;
Nature 536:285-291(2016)
Cited for: VARIANT SER-488;
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.