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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NSU2: Variant p.Asp18Asn

Three-prime repair exonuclease 1
Gene: TREX1
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Variant information Variant position: help 18 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 Aspartate (D) to Asparagine (N) at position 18 (D18N, p.Asp18Asn). 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 (D) to medium size and polar (N) 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 CHBL1 and AGS1; autosomal dominant form; loss of 3'-to-5' DNA exonuclease activity; abolished ability to degrade micronuclear DNA and restrict activation of innate immune response. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 18 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 314 The length of the canonical sequence.
Location on the sequence: help MGSQALPPGPMQTLIFF D MEATGLPFSQPKVTELCLLA 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                         MGSQALPPGPMQTLIFFDMEATGLPFSQPKVTELCLLA

Mouse                         MGSQTLPHGHMQTLIFLDLEATGLPSSRPEVTELCLLA

Bovine                        MGSRALPPGPVQTLIFLDLEATGLPFSQPKITELCLLA
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 – 314 Three-prime repair exonuclease 1
Binding site 18 – 18
Binding site 18 – 18
Binding site 20 – 20
Alternative sequence 1 – 1 M -> MGPGARRQGRIVQGRPEMCFCPPPTPLPPLRILTLGTHTPTPCSSPGSAAGTYPTM. In isoform 1.
Mutagenesis 30 – 30 K -> R. Reduces ubiquitination.
Beta strand 13 – 23



Literature citations
ER-directed TREX1 limits cGAS activation at micronuclei.
Mohr L.; Toufektchan E.; von Morgen P.; Chu K.; Kapoor A.; Maciejowski J.;
Mol. Cell 81:724-738(2021)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT AGS1 ASN-18; A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
Lee-Kirsch M.A.; Chowdhury D.; Harvey S.; Gong M.; Senenko L.; Engel K.; Pfeiffer C.; Hollis T.; Gahr M.; Perrino F.W.; Lieberman J.; Hubner N.;
J. Mol. Med. 85:531-537(2007)
Cited for: VARIANT CHBL1 ASN-18; CHARACTERIZATION OF VARIANT CHBL1 ASN-18; A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutieres syndrome.
Haaxma C.A.; Crow Y.J.; van Steensel M.A.; Lammens M.M.; Rice G.I.; Verbeek M.M.; Willemsen M.A.;
Am. J. Med. Genet. A 152:2612-2617(2010)
Cited for: VARIANT AGS1 ASN-18;
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.