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UniProtKB/Swiss-Prot P18858: Variant p.Arg771Trp

DNA ligase 1
Gene: LIG1
Variant information

Variant position:  771
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 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:  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:  -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:  Found in a patient with a syndrome of immunodeficiency and increased cellular sensitivity to DNA-damaging agents due to LIG1 deficiency; unknown pathological significance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  771
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  919
The length of the canonical sequence.

Location on the sequence:   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: 
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:  
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 LYS-566 AND TRP-771;

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.