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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96HA7: Variant p.Glu539Lys

Tonsoku-like protein
Gene: TONSL
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Variant information Variant position: help 539 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glutamate (E) to Lysine (K) at position 539 (E539K, p.Glu539Lys). 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 medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In SEMDSP; decreased function in double-strand break repair via homologous recombination. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 539 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1378 The length of the canonical sequence.
Location on the sequence: help GSKWNRRNDMGETLLHRACI E GQLRRVQDLVRQGHPLNPRD 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                         GSKWNR-----RNDMGETLLHRACIEGQLRRVQDLVRQGHPLNPRD

Mouse                         VNKWNR-----RNDMGETLLHRACIEGQLRRVQDLVKQGHP

Rat                           INKWNR-----RNDMGETLLHRACIEGQLRRVQDLVKQGHP

Bovine                        VNKWSR-----RNDVGETLLHRACIEGQLGRVQDLVRQGHP

Zebrafish                     TQRWNR-----RNEKGETVLHRACIEGNLKQVQYLIEQGHP

Drosophila                    TTRGNRTLVIKKNNKGETQLHQACISGNLELVRRLIDQGHT
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 – 1378 Tonsoku-like protein
Repeat 528 – 557 ANK 1
Mutagenesis 530 – 530 E -> A. Abolished interaction with histone H4 and recruitment to replication forks without affecting interaction with MMS22L.
Mutagenesis 559 – 559 D -> A. Abolished interaction with histone H4 and recruitment to replication forks without affecting interaction with MMS22L.
Helix 532 – 539



Literature citations
Hypomorphic mutations in TONSL cause sponastrime dysplasia.
Chang H.R.; Cho S.Y.; Lee J.H.; Lee E.; Seo J.; Lee H.R.; Cavalcanti D.P.; Maekitie O.; Valta H.; Girisha K.M.; Lee C.; Neethukrishna K.; Bhavani G.S.; Shukla A.; Nampoothiri S.; Phadke S.R.; Park M.J.; Ikegawa S.; Wang Z.; Higgs M.R.; Stewart G.S.; Jung E.; Lee M.S.; Park J.H.; Lee E.A.; Kim H.; Myung K.; Jeon W.; Lee K.; Kim D.; Kim O.H.; Choi M.; Lee H.W.; Kim Y.; Cho T.J.;
Am. J. Hum. Genet. 104:439-453(2019)
Cited for: INVOLVEMENT IN SEMDSP; FUNCTION; VARIANTS SEMDSP HIS-42; ASN-174; HIS-364; LYS-487; 511-GLN--LEU-1378 DEL; LYS-539; GLN-558; TRP-934; 969-TYR--LEU-1378 DEL; ARG-973 AND GLN-1288; CHARACTERIZATION OF VARIANTS SEMDSP ASN-174; HIS-364; LYS-539; GLN-558; TRP-934 AND ARG-973;
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.