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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P18858: Variant p.Arg771Trp

DNA ligase 1
Gene: LIG1
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Variant information Variant position: help 771 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 Arginine (R) to Tryptophan (W) at position 771 (R771W, p.Arg771Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 IMD96; results in decreased repair response to DNA damage as shown by rescue assays in LIG1-deficient cells; severely reduced DNA ligase activity; 3-fold decrease of affinity for DNA; 4-fold increase of affiniy for Mg2+. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 771 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 919 The length of the canonical sequence.
Location on the sequence: help DGVGDTLDLVVIGAYLGRGK R AGRYGGFLLASYDEDSEELQ 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                         DGVGDTLDLVVIGAYLGRGKRAGRYGGFLLASYDEDSEELQ

Mouse                         DGVGDTLDLVVIGAYLGRGKRAGRYGGFLLAAYDEESEELQ

Rat                           EGVGDTLDLVVIGAYLGRGKRPGRYGGFLLAAYDEESEELA

Xenopus laevis                EGVGDTLDLVVIGAYLGKGKRTGIYGGFLLASYDEESEEYQ

Caenorhabditis elegans        DGVGDTLDLVVMGAYSGVGKRTGVYGGYLLGCYNPTTEEYE

Drosophila                    SNVGDSLDLVVIGGYKGKGRRTGTYGGFLLACYDTENEEYQ

Slime mold                    QGMTDSLDLVPIGAWYGKGKRTGTYGAYLLACYDENNEEFQ

Baker's yeast                 EGVGDSLDLCVLGAYYGRGKRTGTYGGFLLGCYNQDTGEFE

Fission yeast                 SGVGDSLDLIVIGAYYGKGKRTSVYGAFLLGCYDPDTETVQ
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 – 919 DNA ligase 1
Site 770 – 770 Interaction with target DNA
Helix 769 – 771



Literature citations
Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents.
Barnes D.E.; Tomkinson A.E.; Lehmann A.R.; Webster A.D.B.; Lindahl T.;
Cell 69:495-503(1992)
Cited for: VARIANTS IMD96 LYS-566 AND TRP-771; INVOLVEMENT IN IMD96; Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
Maffucci P.; Chavez J.; Jurkiw T.J.; O'Brien P.J.; Abbott J.K.; Reynolds P.R.; Worth A.; Notarangelo L.D.; Felgentreff K.; Cortes P.; Boisson B.; Radigan L.; Cobat A.; Dinakar C.; Ehlayel M.; Ben-Omran T.; Gelfand E.W.; Casanova J.L.; Cunningham-Rundles C.;
J. Clin. Invest. 128:5489-5504(2018)
Cited for: VARIANT LEU-529; CHARACTERIZATION OF VARIANTS HIS-409; LEU-529 AND MET-753; VARIANTS IMD96 LYS-566; LEU-641 AND TRP-771; CHARACTERIZATION OF VARIANTS IMD96 LYS-566; LEU-641 AND TRP-771; INVOLVEMENT IN IMD96; FUNCTION; MUTAGENESIS OF LYS-568; ASP-600; ARG-641; LYS-642; ARG-643 AND LYS-644;
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.