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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NSU2: Variant p.Ala247Pro

Three-prime repair exonuclease 1
Gene: TREX1
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Variant information Variant position: help 247 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 Alanine (A) to Proline (P) at position 247 (A247P, p.Ala247Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) 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 SLE; associated in cis with S-282. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 247 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 GTIRPMYGVTASARTKPRPS A VTTTAHLATTRNTSPSLGES 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                         GTIRPMYGVTASAR-TKPRPSAVTTTAHLATTRNTSPSLGES

Mouse                         STVKPMYGTPATTGTTNLRPHAATATTPLATA-NGSPSNGR

Bovine                        STVKPMYVITTSTG-TNPRPSAVTATVPLARASDTGPNLRG

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
Region 236 – 314 Necessary for endoplasmic reticulum localization
Region 240 – 278 Disordered
Region 243 – 314 Interaction with UBQLN1
Compositional bias 242 – 267 Polar residues
Modified residue 261 – 261 Phosphoserine
Mutagenesis 242 – 242 K -> R. Reduces ubiquitination.



Literature citations
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
Lee-Kirsch M.A.; Gong M.; Chowdhury D.; Senenko L.; Engel K.; Lee Y.A.; de Silva U.; Bailey S.L.; Witte T.; Vyse T.J.; Kere J.; Pfeiffer C.; Harvey S.; Wong A.; Koskenmies S.; Hummel O.; Rohde K.; Schmidt R.E.; Dominiczak A.F.; Gahr M.; Hollis T.; Perrino F.W.; Lieberman J.; Huebner N.;
Nat. Genet. 39:1065-1067(2007)
Cited for: VARIANTS SLE HIS-114; VAL-158; SER-227; SER-240; PRO-247; LEU-290; CYS-305 AND ALA-306; VARIANT GLY-266;
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.