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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q04837: Variant p.Asn62Asp

Single-stranded DNA-binding protein, mitochondrial
Gene: SSBP1
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Variant information Variant position: help 62 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 Asparagine (N) to Aspartate (D) at position 62 (N62D, p.Asn62Asp). 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 polar (N) to medium size and acidic (D) 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 OPA13; reduced ability to stimulate POLG-dependent DNA synthesis in vitro. Any additional useful information about the variant.


Sequence information Variant position: help 62 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 148 The length of the canonical sequence.
Location on the sequence: help DPVLRQVEGKNPVTIFSLAT N EMWRSGDSEVYQLGDVSQKT 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.
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 17 – 148 Single-stranded DNA-binding protein, mitochondrial
Domain 30 – 141 SSB
Modified residue 67 – 67 Phosphoserine
Modified residue 79 – 79 Phosphoserine
Beta strand 54 – 66



Literature citations
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto V.; Ullah F.; Di Meo I.; Magini P.; Gusic M.; Maresca A.; Caporali L.; Palombo F.; Tagliavini F.; Baugh E.H.; Macao B.; Szilagyi Z.; Peron C.; Gustafson M.A.; Khan K.; La Morgia C.; Barboni P.; Carbonelli M.; Valentino M.L.; Liguori R.; Shashi V.; Sullivan J.; Nagaraj S.; El-Dairi M.; Iannaccone A.; Cutcutache I.; Bertini E.; Carrozzo R.; Emma F.; Diomedi-Camassei F.; Zanna C.; Armstrong M.; Page M.; Stong N.; Boesch S.; Kopajtich R.; Wortmann S.; Sperl W.; Davis E.E.; Copeland W.C.; Seri M.; Falkenberg M.; Prokisch H.; Katsanis N.; Tiranti V.; Pippucci T.; Carelli V.;
J. Clin. Invest. 130:108-125(2020)
Cited for: VARIANTS OPA13 VAL-40; ASP-62; GLN-107 AND GLN-111; VARIANT VAL-132; CHARACTERIZATION OF VARIANTS OPA13 VAL-40; ASP-62; GLN-107 AND GLN-111; CHARACTERIZATION OF VARIANT VAL-132; FUNCTION; SUBCELLULAR LOCATION; SUBUNIT;
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.