UniProtKB/SwissProt variant VAR

Three-prime repair exonuclease 1
Gene: TREX1
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Variant information Variant position:

200 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Aspartate (D) to Asparagine (N) at position 200 (D200N, p.Asp200Asn). 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 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:

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:

In AGS1; autosomal dominant form; no effect on dsDNA exonuclease activity; abolishes ssDNA exonuclease activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs78846775 [ dbSNP | Ensembl ]

Sequence information Variant position:

200 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

314 The length of the canonical sequence.
Location on the sequence:

GSIYTRLYGQSPPDSHTAEG D VLALLSICQWRPQALLRWVD 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                         GSIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVD

Mouse                         GSIYTRLYWQAPTDSHTAEGDVLTLLSICQWKPQALLQWVD

Bovine                        GSVYTRLYGQAPPDSHTAEGDVLALLSVCQWRPRALLRWVD

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.

Type	Positions	Description
Chain	1 – 314	Three-prime repair exonuclease 1
Active site	195 – 195	Proton donor/acceptor
Binding site	200 – 200
Binding site	200 – 200
Helix	197 – 208

Literature citations
The TREX1 C-terminal region controls cellular localization through ubiquitination.
Orebaugh C.D.; Fye J.M.; Harvey S.; Hollis T.; Wilkinson J.C.; Perrino F.W.;
J. Biol. Chem. 288:28881-28892(2013)
Cited for: INTERACTION WITH UBQLN1; UBIQUITINATION; CHARACTERIZATION OF VARIANTS AGS1 ALA-122; LYS-198; ASN-200 AND PRO-303; CHARACTERIZATION OF VARIANTS SLE LEU-290 AND CYS-305; MUTAGENESIS OF LYS-30; LYS-66; LYS-75; LYS-160; LYS-175; LYS-242; LYS-271 AND LYS-277; Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
Rice G.; Newman W.G.; Dean J.; Patrick T.; Parmar R.; Flintoff K.; Robins P.; Harvey S.; Hollis T.; O'Hara A.; Herrick A.L.; Bowden A.P.; Perrino F.W.; Lindahl T.; Barnes D.E.; Crow Y.J.;
Am. J. Hum. Genet. 80:811-815(2007)
Cited for: INVOLVEMENT IN CHBL1; VARIANT AGS1 ASN-200; CHARACTERIZATION OF VARIANT AGS1 ASN-200; Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G.; Patrick T.; Parmar R.; Taylor C.F.; Aeby A.; Aicardi J.; Artuch R.; Montalto S.A.; Bacino C.A.; Barroso B.; Baxter P.; Benko W.S.; Bergmann C.; Bertini E.; Biancheri R.; Blair E.M.; Blau N.; Bonthron D.T.; Briggs T.; Brueton L.A.; Brunner H.G.; Burke C.J.; Carr I.M.; Carvalho D.R.; Chandler K.E.; Christen H.J.; Corry P.C.; Cowan F.M.; Cox H.; D'Arrigo S.; Dean J.; De Laet C.; De Praeter C.; Dery C.; Ferrie C.D.; Flintoff K.; Frints S.G.; Garcia-Cazorla A.; Gener B.; Goizet C.; Goutieres F.; Green A.J.; Guet A.; Hamel B.C.; Hayward B.E.; Heiberg A.; Hennekam R.C.; Husson M.; Jackson A.P.; Jayatunga R.; Jiang Y.H.; Kant S.G.; Kao A.; King M.D.; Kingston H.M.; Klepper J.; van der Knaap M.S.; Kornberg A.J.; Kotzot D.; Kratzer W.; Lacombe D.; Lagae L.; Landrieu P.G.; Lanzi G.; Leitch A.; Lim M.J.; Livingston J.H.; Lourenco C.M.; Lyall E.G.; Lynch S.A.; Lyons M.J.; Marom D.; McClure J.P.; McWilliam R.; Melancon S.B.; Mewasingh L.D.; Moutard M.L.; Nischal K.K.; Ostergaard J.R.; Prendiville J.; Rasmussen M.; Rogers R.C.; Roland D.; Rosser E.M.; Rostasy K.; Roubertie A.; Sanchis A.; Schiffmann R.; Scholl-Burgi S.; Seal S.; Shalev S.A.; Corcoles C.S.; Sinha G.P.; Soler D.; Spiegel R.; Stephenson J.B.; Tacke U.; Tan T.Y.; Till M.; Tolmie J.L.; Tomlin P.; Vagnarelli F.; Valente E.M.; Van Coster R.N.; Van der Aa N.; Vanderver A.; Vles J.S.; Voit T.; Wassmer E.; Weschke B.; Whiteford M.L.; Willemsen M.A.; Zankl A.; Zuberi S.M.; Orcesi S.; Fazzi E.; Lebon P.; Crow Y.J.;
Am. J. Hum. Genet. 81:713-725(2007)
Cited for: VARIANTS AGS1 HIS-114; ALA-122; ASN-200; ASP-201 AND PRO-303;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NSU2: Variant p.Asp200Asn