UniProtKB/Swiss-Prot P19235: Variant p.Pro488Ser

Erythropoietin receptor
Gene: EPOR
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Variant information Variant position:

488 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

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:

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:

-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:

Links to websites of interest for the variant.

Variant rs142094773 [ dbSNP | Ensembl ]

Sequence information Variant position:

488 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:

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:

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:

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
Region	467 – 494	Disordered
Compositional bias	467 – 488	Polar residues
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.