Home  |  Contact

UniProtKB/Swiss-Prot P01588: Variant p.Pro114Leu

Erythropoietin
Gene: EPO
Variant information

Variant position:  114
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Proline (P) to Leucine (L) at position 114 (P114L, p.Pro114Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Variant description:  In ECYT5; unknown pathological significance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  114
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  193
The length of the canonical sequence.

Location on the sequence:   LALLSEAVLRGQALLVNSSQ  P WEPLQLHVDKAVSGLRSLTT
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                         LALLSEAVLRGQALLVNSSQPWEPLQLHVDKAVSGLRSLTT

                              LALLSEAILRGQALLANASQPSETPQLHVDKAVSSLRSLTS

Rhesus macaque                LALLSEAVLRGQAVLANSSQPFEPLQLHMDKAISGLRSITT

Mouse                         LSLLSEAILQAQALLANSSQPPETLQLHIDKAISGLRSLTS

Rat                           LSLLSEAILQAQALQANSSQPPESLQLHIDKAISGLRSLTS

Pig                           LALLSEAILQGQALLANSSQPSEALQLHVDKAVSGLRSLTS

Bovine                        LALLSEAILRGQALLANASQPCEALRLHVDKAVSGLRSLTS

Rabbit                        LALLSEAMLRSQALLANSSQLPETLQVHVDKAVSGLRSLTS

Sheep                         LALLSEAIFRGQALLANASQPCEALRLHVDKAVSGLRSLTS

Cat                           LALLSEAILRGQALLANSSQPSETLQLHVDKAVSSLRSLTS

Horse                         LALLSEAILQGQALLANSSQPSETLRLHVDKAVSSLRSLTS

Zebrafish                     LHMLNEAI--GSLQISNQT---EVLQSHIDASIRNIASIRQ

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.

TypePositionsDescription
Chain 28 – 193 Erythropoietin
Glycosylation 110 – 110 N-linked (GlcNAc...) asparagine
Disulfide bond 34 – 188
Mutagenesis 127 – 127 S -> E. Decreased erythrocyte proliferation; impaired EPOR dimerization following binding.


Literature citations

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C.; Petousi N.; Bento C.; Cario H.; Copley R.R.; McMullin M.F.; van Wijk R.; Ratcliffe P.J.; Robbins P.A.; Taylor J.C.;
Haematologica 101:1306-1318(2016)
Cited for: INVOLVEMENT IN ECYT5; VARIANTS ECYT5 ASN-70; ARG-84; LEU-114 AND CYS-147; VARIANT GLY-99;

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.