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UniProtKB/Swiss-Prot Q13472: Variant p.Met100Val

DNA topoisomerase 3-alpha
Gene: TOP3A
Variant information

Variant position:  100
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Methionine (M) to Valine (V) at position 100 (M100V, p.Met100Val).
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

Variant description:  In PEOB5; results in decreased DNA decatenation.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  100
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1001
The length of the canonical sequence.

Location on the sequence:   QNVTMVMTSVSGHLLAHDFQ  M QFRKWQSCNPLVLFEAEIEK
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                         QNVTMVMTSVSGHLLAHDFQMQFRKWQSCNPLVLFEAEIEK

Mouse                         QNVTMIMTSVSGHLLAHDFQMQFRKWQSCNPLVLFEAEIEK

Drosophila                    QNAKMVMTSVSGHMMQLAFQVSYKNWRTVDPRSLFDAPVKK

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.

TypePositionsDescription
Chain 1 – 1001 DNA topoisomerase 3-alpha
Domain 35 – 179 Toprim
Alternative sequence 1 – 105 MIFPVARYALRWLRRPEDRAFSRAAMEMALRGVRKVLCVAEKNDAAKGIADLLSNGRMRRREGLSKFNKIYEFDYHLYGQNVTMVMTSVSGHLLAHDFQMQFRKW -> MNLIIICMAR. In isoform 3.
Helix 100 – 103


Literature citations

Topoisomerase 3alpha is required for decatenation and segregation of human mtDNA.
Nicholls T.J.; Nadalutti C.A.; Motori E.; Sommerville E.W.; Gorman G.S.; Basu S.; Hoberg E.; Turnbull D.M.; Chinnery P.F.; Larsson N.G.; Larsson E.; Falkenberg M.; Taylor R.W.; Griffith J.D.; Gustafsson C.M.;
Mol. Cell 69:9-23(2018)
Cited for: FUNCTION; SUBUNIT; SUBCELLULAR LOCATION; INVOLVEMENT IN PEOB5; VARIANTS PEOB5 VAL-100 AND 135-ARG--ARG-1001 DEL; CHARACTERIZATION OF VARIANT PEOB5 VAL-100; MUTAGENESIS OF TYR-362;

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.