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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01588: Variant p.Asp70Asn

Erythropoietin
Gene: EPO
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Variant information Variant position: help 70 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Aspartate (D) to Asparagine (N) at position 70 (D70N, p.Asp70Asn). 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 acidic (D) to medium size and polar (N) 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

Variant description: help In ECYT5; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 70 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 193 The length of the canonical sequence.
Location on the sequence: help ENITTGCAEHCSLNENITVP D TKVNFYAWKRMEVGQQAVEV 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                         ENITTGCAEHCSLNENITVPDTKVNFYAWKRMEVGQQAVEV

                              ENVTMGCAQGCSFSENITVPDTKVNFYTWKRMDVGQQALEV

Rhesus macaque                ENVTMGCSESCSLNENITVPDTKVNFYAWKRIEVGQQAVEV

Mouse                         ENVTMGCAEGPRLSENITVPDTKVNFYAWKRMEVEEQAIEV

Rat                           ENVTMGCAEGPRLSENITVPDTKVNFYAWKRMKVEEQAVEV

Pig                           ENATMGCAESCSFSENITVPDTKVNFYAWKRMEVQQQAMEV

Bovine                        ENATMGCAEGCSFNENITVPDTKVNFYAWKRMEVQQQALEV

Rabbit                        ENVTMGCAEGCSLGENITVPDTKVNFHHWKKSEAGRHAVEV

Sheep                         ENATMGCAEGCSFSENITVPDTKVNFYAWKRMEVQQQALEV

Cat                           ENVTMGCAEGCSFSENITVPDTKVNFYTWKRMDVGQQAVEV

Horse                         ENVTMGCAEGCSFGENVTVPDTKVNFYSWKRMEVEQQAVEV

Zebrafish                     EAAMRTCKDDCSIATNVTVPLTRVDFEVWEAMNIEEQAQEV

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 28 – 193 Erythropoietin
Glycosylation 51 – 51 N-linked (GlcNAc...) asparagine
Glycosylation 65 – 65 N-linked (GlcNAc...) asparagine
Disulfide bond 34 – 188



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.