Variant position: 181 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 449 The length of the canonical sequence.
Location on the sequence:
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 GHTPSHHAAQFPNHSFKHED PMGQQGSLGEQQYSVPPPVYG
Mouse GHTPSHHAAQFPNHSFKHED PMGQQGSLGEQQYSVPPPVYG
Rat GHTPSHHAAQFPNHSFKHED PMGQQGSLGEQQYSVPPPVYG
Pig GHTPSHHAAQFPNHSFKHED PMGQQGSLGEQQYSVPPPVYG
Xenopus tropicalis GHTPSHHTAQFTNHSFKHED PMGQQTSLGEQQYSVPPPVYG
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
1 – 449 Wilms tumor protein
177 – 177 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
177 – 177 K -> R. Abolishes sumoylation; when associated with R-77.
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.
Schumacher V.; Schneider S.; Figge A.; Wildhardt G.; Harms D.; Schmidt D.; Weirich A.; Ludwig R.; Royer-Pokora B.;
Proc. Natl. Acad. Sci. U.S.A. 94:3972-3977(1997)
Cited for: VARIANTS WT1 SER-181 AND ALA-253;
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.
Royer-Pokora B.; Beier M.; Henzler M.; Alam R.; Schumacher V.; Weirich A.; Huff V.;
Am. J. Med. Genet. A 127:249-257(2004)
Cited for: VARIANTS WT1 SER-181; GLY-355; CYS-366; HIS-366; GLN-373; TRP-394 AND LEU-394;
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