UniProtKB/Swiss-Prot P01588: Variant p.Glu99Gly

Erythropoietin
Gene: EPO
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Variant information Variant position:

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

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:

From Glutamate (E) to Glycine (G) at position 99 (E99G, p.Glu99Gly). 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 acidic (E) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Found in a patient thought to have erythrocytosis, but had normal red cell mass; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

99 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:

KRMEVGQQAVEVWQGLALLS E AVLRGQALLVNSSQPWEPLQ 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                         KRMEVGQQAVEVWQGLALLSEAVLRGQALLVNSSQPWEPLQ

                              KRMDVGQQALEVWQGLALLSEAILRGQALLANASQPSETPQ

Rhesus macaque                KRIEVGQQAVEVWQGLALLSEAVLRGQAVLANSSQPFEPLQ

Mouse                         KRMEVEEQAIEVWQGLSLLSEAILQAQALLANSSQPPETLQ

Rat                           KRMKVEEQAVEVWQGLSLLSEAILQAQALQANSSQPPESLQ

Pig                           KRMEVQQQAMEVWQGLALLSEAILQGQALLANSSQPSEALQ

Bovine                        KRMEVQQQALEVWQGLALLSEAILRGQALLANASQPCEALR

Rabbit                        KKSEAGRHAVEVWQGLALLSEAMLRSQALLANSSQLPETLQ

Sheep                         KRMEVQQQALEVWQGLALLSEAIFRGQALLANASQPCEALR

Cat                           KRMDVGQQAVEVWQGLALLSEAILRGQALLANSSQPSETLQ

Horse                         KRMEVEQQAVEVWQGLALLSEAILQGQALLANSSQPSETLR

Zebrafish                     EAMNIEEQAQEVQSGLHMLNEAI--GSLQISNQT---EVLQ

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	28 – 193	Erythropoietin
Glycosylation	110 – 110	N-linked (GlcNAc...) asparagine
Disulfide bond	34 – 188
Helix	83 – 109

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.