UniProtKB/Swiss-Prot P06744: Variant p.Ser160Pro

Glucose-6-phosphate isomerase
Gene: GPI
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Variant information Variant position:

160 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 Serine (S) to Proline (P) at position 160 (S160P, p.Ser160Pro). 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 small size and polar (S) to medium size and hydrophobic (P) 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
Variant description:

In HA-GPID; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

160 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

558 The length of the canonical sequence.
Location on the sequence:

DWKGYTGKTITDVINIGIGG S DLGPLMVTEALKPYSSGGPR 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                         DWKGYTGKTITDVINIGIGGSDLGPLMVTEALKPYSSG-GPR

Mouse                         DWKGYTGKSITDIINIGIGGSDLGPLMVTEALKPYSKG-GP

Rat                           DWKGYTGKAITDIINIGIGGSDLGPLMVTEALKPYSKG-GP

Pig                           EWKGYSGKSITDVINIGIGGSDLGPLMVTEALKPYSAE-GP

Bovine                        EWKGYSGKAITDVINIGIGGSDLGPLMVTEALKPYSSE-GP

Rabbit                        DWKGYTGKTITDVINIGIGGSDLGPLMVTEALKPYSSG-GP

Drosophila                    VWRGCTGKQITDVVNIGIGGSDLGPLMVTEALKPYGKG--L

Slime mold                    QWKGYTGKTITDVVNIGIGGSDLGPVMVTQALKNYANDKVM

Baker's yeast                 EWKGYTGKKITDVVNIGIGGSDLGPVMVTEALKHYA-G-VL

Fission yeast                 AWKGYTGKPIKSIVNVGIGGSDLGPVMVTEALKPYGQE-NL

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	2 – 558	Glucose-6-phosphate isomerase
Binding site	159 – 160
Modified residue	142 – 142	N6-acetyllysine
Alternative sequence	135 – 162	Missing. In isoform 2.
Helix	158 – 160

Literature citations
Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.
Mojzikova R.; Koralkova P.; Holub D.; Saxova Z.; Pospisilova D.; Prochazkova D.; Dzubak P.; Horvathova M.; Divoky V.;
Blood Cells Mol. Dis. 69:23-29(2018)
Cited for: VARIANTS HA-GPID PRO-160 AND CYS-472; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;

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.