UniProtKB/Swiss-Prot P11387: Variant p.Asp533Gly

DNA topoisomerase 1
Gene: TOP1
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Variant information Variant position:

533 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Aspartate (D) to Glycine (G) at position 533 (D533G, p.Asp533Gly). 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 medium size and acidic (D) to glycine (G) 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
Variant description:

In CPT-resistant leukemia. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs267607131 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NLHPELDGQEYVVEFDFLGK D SIRYYNKVPVEKRVFKNLQL 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                         NLH-------PELDGQEYVVEFDFLGKDSIRYYNKVPVEKRVFKNLQL

Mouse                         NLH-------PELDGQEYVVEFDFPGKDSIRYYNKVPVEKR

Rat                           NLH-------PELDGQEYVVEFDFPGKDSIRYYNKVPVEKR

Xenopus laevis                NLF-------QELDGQEFVVEFDFPGKDSIRYYNKVPVEKR

Caenorhabditis elegans        KLFDSAKLNEDDKKEKEFVVEFDFLGKDSIRYFNRVSVEKR

Drosophila                    QLH-------KELNGKENVVVFDFPGKDSIRYYNEVEVEKR

Slime mold                    KLE------------SNNTITLDFLGKDSMRYLNTVQIRED

Baker's yeast                 TLK------------PPNTVIFDFLGKDSIRFYQEVEVDKQ

Fission yeast                 TLK------------PPRTVVFDFLGKDSIRYYNEVEVDPQ

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	2 – 765	DNA topoisomerase 1
Domain	432 – 765	Topo IB-type catalytic
Site	532 – 532	Interaction with DNA
Cross	549 – 549	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Mutagenesis	532 – 532	K -> A. Almost abolishes enzyme activity.
Mutagenesis	532 – 532	K -> R. Strongly reduced enzyme activity.
Helix	532 – 534

Literature citations
Molecular cloning of a cDNA of a camptothecin-resistant human DNA topoisomerase I and identification of mutation sites.
Tamura H.; Kohchi C.; Yamada R.; Ikeda T.; Koiwai O.; Patterson E.; Keene J.D.; Okada K.; Kjeldsen E.; Nishikawa K.;
Nucleic Acids Res. 19:69-75(1991)
Cited for: VARIANT CPT-RESISTANT LEUKEMIA GLY-533;

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.