UniProtKB/Swiss-Prot P36639: Variant p.Val83Met

Oxidized purine nucleoside triphosphate hydrolase
Gene: NUDT1
Feedback?

Variant information Variant position:

83 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 Methionine (M) at position 83 (V83M, p.Val83Met). 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:

1 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:

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.
Variant description:

Decreased localization to mitochondrion. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs4866 [ dbSNP | Ensembl ]

Sequence information Variant position:

83 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

156 The length of the canonical sequence.
Location on the sequence:

ALHKVGQIVFEFVGEPELMD V HVFCTDSIQGTPVESDEMRP 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                         ALHKVGQIVFEFVGEPELMDVHVFCTDSIQGTPVESDEMRP

Mouse                         TLHKVGHISFEFVGSPELMDVHIFSADHVHGTPTESEEMRP

Rat                           TLHKVGHISFEFVGSPELMDVHIFSTDHVHGTPTESEEMRP

Zebrafish                     TLHKIGNIKFEFIGETELMDVHIFRADNYEGEPAESDEMRP

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
Chain	1 – 156	Oxidized purine nucleoside triphosphate hydrolase
Domain	3 – 132	Nudix hydrolase
Binding site	100 – 100
Beta strand	79 – 90

Literature citations
Regulation of expression of the human MTH1 gene encoding 8-oxo-dGTPase. Alternative splicing of transcription products.
Oda H.; Nakabeppu Y.; Furuichi M.; Sekiguchi M.;
J. Biol. Chem. 272:17843-17850(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM P18); TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; VARIANT MET-83; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS P18 AND P22); VARIANT MET-83; The GT to GC single nucleotide polymorphism at the beginning of an alternative exon 2C of human MTH1 gene confers an amino terminal extension that functions as a mitochondrial targeting signal.
Sakai Y.; Oda H.; Yoshimura D.; Furuichi M.; Kang D.; Iwai S.; Hara T.; Nakabeppu Y.;
J. Mol. Med. 84:660-670(2006)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION (ISOFORM P26); ALTERNATIVE SPLICING; CHARACTERIZATION OF VARIANT MET-83; Association study of human MTH1 gene polymorphisms with type 1 diabetes mellitus.
Miyako K.; Kohno H.; Ihara K.; Kuromaru R.; Matsuura N.; Hara T.;
Endocr. J. 51:493-498(2004)
Cited for: VARIANT MET-83; Association of polymorphisms in the MTH1 gene with small cell lung carcinoma risk.
Kohno T.; Sakiyama T.; Kunitoh H.; Goto K.; Nishiwaki Y.; Saito D.; Hirose H.; Eguchi T.; Yanagitani N.; Saito R.; Sasaki-Matsumura R.; Mimaki S.; Toyama K.; Yamamoto S.; Kuchiba A.; Sobue T.; Ohta T.; Ohki M.; Yokota J.;
Carcinogenesis 27:2448-2454(2006)
Cited for: VARIANT MET-83;

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.