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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36639: Variant p.Gly36Trp

Oxidized purine nucleoside triphosphate hydrolase
Gene: NUDT1
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Variant information Variant position: help 36 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glycine (G) to Tryptophan (W) at position 36 (G36W, p.Gly36Trp). 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 glycine (G) to large size and aromatic (W) 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
Polymorphism: help A polymorphism between Met-1 and Met-19 removes a stop codon before the initiation codon for isoform p22 and gives rise to the production of isoform p26. The allele frequency of isoform p26 is about 20%. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 36 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 156 The length of the canonical sequence.
Location on the sequence: help QRVLLGMKKRGFGAGRWNGF G GKVQEGETIEDGARRELQEE 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                         QRVLLGMKKRGFGAGRWNGFGGKVQEGETIEDGARRELQEE

Mouse                         QRVLLGMKKRGFGAGRWNGFGGKVQEGETIEDGAKRELLEE

Rat                           QRVLLGMKKRGFGAGRWNGFGGKVQEGETIEDGAKRELLEE

Zebrafish                     GRVLLGMKKRGFGAGKWNGFGGKVQTGETIEQAARRELLEE
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
Chain 1 – 156 Oxidized purine nucleoside triphosphate hydrolase
Domain 3 – 132 Nudix hydrolase
Binding site 23 – 23
Binding site 23 – 23
Binding site 23 – 23
Binding site 23 – 23
Binding site 27 – 27
Binding site 33 – 33
Binding site 33 – 33
Binding site 33 – 33
Binding site 33 – 33
Binding site 35 – 38
Binding site 35 – 38
Binding site 35 – 38
Binding site 36 – 36
Binding site 52 – 52
Binding site 52 – 52
Binding site 55 – 55
Binding site 56 – 56
Binding site 56 – 56
Mutagenesis 27 – 27 F -> A. Reduces 2-oxo-dATPase and 8-oxo-dGTPase activities.
Mutagenesis 36 – 36 G -> R. Reduces activity by 97%.
Mutagenesis 37 – 37 G -> F. Loss of activity.
Mutagenesis 39 – 39 V -> E. Loss of activity.
Mutagenesis 40 – 40 Q -> P. Reduces activity by 97%.
Mutagenesis 42 – 42 G -> I. Reduces activity by 60%.
Mutagenesis 45 – 45 I -> K. Loss of activity.
Mutagenesis 47 – 47 D -> P. Loss of activity.
Mutagenesis 48 – 48 G -> M. Loss of activity.
Mutagenesis 49 – 49 A -> P. Loss of activity.
Mutagenesis 53 – 53 L -> P. Loss of activity.
Mutagenesis 54 – 54 Q -> P. Loss of activity.
Mutagenesis 55 – 55 E -> G. Loss of activity.
Mutagenesis 56 – 56 E -> A. Loss of ability to prevent DNA damage. Expected to cause loss of enzyme activity.
Mutagenesis 56 – 56 E -> Y. Loss of activity.
Beta strand 35 – 38



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.