UniProtKB/SwissProt variant VAR

Variant information

Variant position:

154

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

Type of variant:

Polymorphism

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Arginine (R) to Histidine (H) at position 154 (R154H, p.Arg154His).

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:

Change from large size and basic (R) to medium size and polar (H)

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

Variant description:

Found in a gastric cancer sample; no effect on base-excision activity; alters substrate specificity and strongly increases mutagenic mis-repair.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs56053615 [ dbSNP | Ensembl ]

Sequence information

Variant position:

154

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

Protein sequence length:

345

The length of the canonical sequence.

Location on the sequence:

RQDPIECLFSFICSSNNNIA R ITGMVERLCQAFGPRLIQLD

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                         RQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLD

Mouse                         RQDPTECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLD

Rat                           RQDPTECLFSFICSSNNNIARITGMVERLCQAFGPRLVQLD

Drosophila                    SQEPFENIFSFLCSQNNNIKRISSMIEWFCATFGTKIGHFN

Baker's yeast                 AQEPWETLISFICSSNNNISRITRMCNSLCSNFGNLITTID

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 – 345	N-glycosylase/DNA lyase
Binding site	149 – 149	DNA
Binding site	154 – 154	DNA
Helix	152 – 166

Literature citations

Structural basis for recognition and repair of the endogenous mutagen 8-oxoguanine in DNA.
Bruner S.D.; Norman D.P.G.; Verdine G.L.;
Nature 403:859-866(2000)
Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 12-327 OF MUTANT GLN-247 IN COMPLEX WITH DNA; CHARACTERIZATION OF VARIANT HIS-154;

Infrequent mutations of the hOGG1 gene, that is involved in the excision of 8-hydroxyguanine in damaged DNA, in human gastric cancer.
Shinmura K.; Kohno T.; Kasai H.; Koda K.; Sugimura H.; Yokota J.;
Jpn. J. Cancer Res. 89:825-828(1998)
Cited for: VARIANT HIS-154;

Effect of single mutations in the OGG1 gene found in human tumors on the substrate specificity of the ogg1 protein.
Audebert M.; Radicella J.P.; Dizdaroglu M.;
Nucleic Acids Res. 28:2672-2678(2000)
Cited for: CHARACTERIZATION OF VARIANTS GLN-46 AND HIS-154;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15527: Variant p.Arg154His