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UniProtKB/Swiss-Prot P52789: Variant p.Gln142His

Hexokinase-2
Gene: HK2
Variant information

Variant position:  142
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 Glutamine (Q) to Histidine (H) at position 142 (Q142H, p.Gln142His).
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 polar.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  Although found in NIDDM patients, genetic variations of HK2 do not contribute to the disease (PubMed:7883122, PubMed:7883123).
Additional information on the polymorphism described.

Variant description:  Does not affect activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  142
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  917
The length of the canonical sequence.

Location on the sequence:   SGTQLFDHIAECLANFMDKL  Q IKDKKLPLGFTFSFPCHQTK
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                         SGTQLFDHIAECLANFMDKLQIKDKKLPLGFTFSFPCHQTK

Mouse                         SGTQLFDHIAECLANFMDKLQIKEKKLPLGFTFSFPCHQTK

Rat                           SGTQLFDHIAECLANFMDKLQIKEKKLPLGFTFSFPCHQTK

Pig                           SGTQLFDHIAECLANFMDKLQIKDKKLPLGFTFSFPCIQTK

Horse                         SGTQLFDHIAGCLANFMDKLQIKDKKLPLGFTFSFPCIQTK

Drosophila                    -----------------------------------------

Fission yeast                 -----------------------------------------

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 – 917 Hexokinase-2
Domain 16 – 458 Hexokinase 1
Region 73 – 207 Hexokinase small subdomain 1


Literature citations

Human hexokinase II gene: exon-intron organization, mutation screening in NIDDM, and its relationship to muscle hexokinase activity.
Lehto M.; Huang X.; Davis E.M.; Le Beau M.M.; Laurila E.; Eriksson K.F.; Bell G.I.; Groop L.C.;
Diabetologia 38:1466-1474(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT HIS-142;

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-142; CYS-274; PRO-314; ILE-331; SER-387; GLN-801; LYS-844 AND ASN-881;

Analysis of the hexokinase II gene in subjects with insulin resistance and NIDDM and detection of a Gln142-->His substitution.
Vidal-Puig A.; Printz R.L.; Stratton I.M.; Granner D.K.; Moller D.E.;
Diabetes 44:340-346(1995)
Cited for: VARIANT HIS-142;

Identification of four amino acid substitutions in hexokinase II and studies of relationships to NIDDM, glucose effectiveness, and insulin sensitivity.
Echwald S.M.; Bjoerbaek C.; Hansen T.; Clausen J.O.; Vestergaard H.; Zierath J.R.; Printz R.L.; Granner D.K.; Pedersen O.;
Diabetes 44:347-353(1995)
Cited for: VARIANTS HIS-142; PHE-148; GLN-497 AND LYS-844;

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.