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UniProtKB/Swiss-Prot P36871: Variant p.Val501Ile

Phosphoglucomutase-1
Gene: PGM1
Variant information

Variant position:  501
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Valine (V) to Isoleucine (I) at position 501 (V501I, p.Val501Ile).
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

Polymorphism:  Many polymorphic variants of PGM1 exist. 8 different alleles are known: PGM1*1+, PGM1*1-, PGM1*2+, PGM1*2-, PGM1*3+, PGM1*3-, PGM1*7+ and PGM1*7-. The sequence of PGM1*1+ is shown here.
Additional information on the polymorphism described.

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



Sequence information

Variant position:  501
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  562
The length of the canonical sequence.

Location on the sequence:   DGSISRNQGLRLIFTDGSRI  V FRLSGTGSAGATIRLYIDSY
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                         DGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSY

Mouse                         DGSISKNQGLRLIFADGSRIIFRLSGTGSAGATIRLYIDSY

Rat                           DGSISKNQGLRLIFADGSRIIFRLSGTGSAGATIRLYIDSY

Bovine                        DGSISRNQGLRLLFADGSRIIFRLSGTGSAGATIRLYIDSY

Rabbit                        DGSVSKNQGLRLIFADGSRIIFRLSGTGSAGATIRLYIDSY

Slime mold                    DSSVSSHQGLRIIFTDGSRIIYRLSGTGSTGATVRVYFDKY

Baker's yeast                 DGSISENQGLFVKFSNGTKFVLRLSGTGSSGATIRLYVEKY

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 1 – 562 Phosphoglucomutase-1
Binding site 515 – 515 Substrate
Modified residue 485 – 485 Phosphoserine
Modified residue 505 – 505 Phosphoserine
Modified residue 507 – 507 Phosphothreonine
Modified residue 509 – 509 Phosphoserine
Beta strand 499 – 504


Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

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.