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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06744: Variant p.His20Pro

Glucose-6-phosphate isomerase
Gene: GPI
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Variant information Variant position: help 20 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Histidine (H) to Proline (P) at position 20 (H20P, p.His20Pro). 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 polar (H) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In HA-GPID; severe form with neurological deficits; GPI Homburg. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 20 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 558 The length of the canonical sequence.
Location on the sequence: help MAALTRDPQFQKLQQWYRE H RSELNLRRLFDANKDRFNHF 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                         MAALTRDPQFQKLQQWYREHRSELNLRRLFDAN--KDRFNHF

Mouse                         MAALTRNPQFQKLLEWHRANSANLKLRELFEAD--PERFN

Rat                           MAALTRNPEFQKLLEWHRANSANLKLRELFEAD--PERFN

Pig                           MAALTQNPQFKKLQTWYHEHRSDLNLRRLFEGD--KDRFN

Bovine                        MAALTQNPQFKKLKTWYEQHGSDLNLRRLFEGD--RDRFN

Rabbit                        MAALTRNPQFQKLQQWHREHGSELNLRHLFDTD--KERFN

Drosophila                    LPPLNQEAAFQKLQEYYDSKGKDLNIKDLFVKD--SKRFS

Slime mold                    ------MEEFKNLKEHYENIGKNINMRKEFESNYGATRFK

Baker's yeast                 FKLATELPAWSKLQKIYESQGKTLSVKQEFQKD--AKRFE

Fission yeast                 FSLASTLPAWQAVQTHYESVGKHLVLKELFAKD--SSRFE

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
Initiator methionine 1 – 1 Removed
Chain 2 – 558 Glucose-6-phosphate isomerase
Modified residue 2 – 2 N-acetylalanine
Modified residue 12 – 12 N6-acetyllysine
Modified residue 34 – 34 N6-(2-hydroxyisobutyryl)lysine
Alternative sequence 1 – 1 M -> MVALCSLQHLGSSDPRALPTLPTATSGQRPAKRRRKSPAM. In isoform 2.
Helix 8 – 20



Literature citations
Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.
Kugler W.; Breme K.; Laspe P.; Muirhead H.; Davies C.; Winkler H.; Schroter W.; Lakomek M.;
Hum. Genet. 103:450-454(1998)
Cited for: VARIANTS HA-GPID PRO-20; PRO-339; ARG-389 AND VAL-517;
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.