UniProtKB/Swiss-Prot Q8IYB7: Variant p.Arg483Gly

DIS3-like exonuclease 2
Gene: DIS3L2
Feedback?

Variant information Variant position:

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

LB/B 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 Glycine (G) at position 483 (R483G, p.Arg483Gly). 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 glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Polymorphism:

Disrupted by a t(2;7)(q37.1;q21.3) chromosomal translocation found in a patient suffering from Marfanoid habitus and skeletal anomalies. However, its absence does not seem to be the cause of the disease. Additional information on the polymorphism described.
Variant description:

Found in a patient with Wilms tumor; likely pathogenic; does not suppress anchorage-independent cell growth. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs186865544 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TFSVIWTLTPEGKILDEWFG R TIIRSCTKLSYEHAQSMIES 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                         TFSVIWTLTPEG-KILDEWFGRTIIRSCTKLSYEHAQSMIES

Mouse                         TFSVIWKLTPEG-KILEEWFGRTIIRSCTKLSYDHAQSMIE

Xenopus tropicalis            TFSVIWKITPQG-EILDEWFGRSVICSCVKLSYDHAQNMIN

Caenorhabditis elegans        SFSTVFKMSYEA-ELYDVWFGRSVIRSRVKLAYEHAQDFIE

Fission yeast                 AFSVFWKLDSNGKEIGKRWFGKTVIKTCARLAYSEAQGVIE

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 – 885	DIS3-like exonuclease 2
Alternative sequence	250 – 885	Missing. In isoform 4.
Alternative sequence	357 – 885	Missing. In isoform 5.
Beta strand	476 – 487

Literature citations
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.
Astuti D.; Morris M.R.; Cooper W.N.; Staals R.H.; Wake N.C.; Fews G.A.; Gill H.; Gentle D.; Shuib S.; Ricketts C.J.; Cole T.; van Essen A.J.; van Lingen R.A.; Neri G.; Opitz J.M.; Rump P.; Stolte-Dijkstra I.; Muller F.; Pruijn G.J.; Latif F.; Maher E.R.;
Nat. Genet. 44:277-284(2012)
Cited for: SUBCELLULAR LOCATION; VARIANT PRLMNS TYR-489; VARIANTS GLY-483 AND HIS-576; CHARACTERIZATION OF VARIANTS GLY-483 AND HIS-576;

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.