Variant position: 253 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 LECMTWNQMNLGATLKGVAA GSSSSVKWTEGQSNHSTGYES
Mouse LECMTWNQMNLGATLKGMAA GSSSSVKWTEGQSNHGIGYES
Rat LECMTWNQMNLGATLKGMAA GSSSSVKWTEGQSNHGTGYES
Pig LECMTWNQMNLGATLKGVAA GTSSSMKWTEGQSNHGAGYES
Xenopus tropicalis LECMTWNQMNLGSSLK---- -------------SHGTSYEN
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
250 – 266 Missing. In isoform 2, isoform 3, isoform 8 and isoform 9.
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;
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.