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:
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 SGTQLFDHIAECLANFMDKL QIKDKKLPLGFTFSFPCHQTK
Mouse SGTQLFDHIAECLANFMDKL QIKEKKLPLGFTFSFPCHQTK
Rat SGTQLFDHIAECLANFMDKL QIKEKKLPLGFTFSFPCHQTK
Pig SGTQLFDHIAECLANFMDKL QIKDKKLPLGFTFSFPCIQTK
Horse SGTQLFDHIAGCLANFMDKL QIKDKKLPLGFTFSFPCIQTK
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.
Type Positions Description
1 – 917 Hexokinase-2
16 – 458 Hexokinase 1
73 – 207 Hexokinase small subdomain 1
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.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT HIS-142;
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.;
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.;
Cited for: VARIANTS HIS-142; PHE-148; GLN-497 AND LYS-844;
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