Variant position: 388 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 DQLKRHQRRHTGVKPFQCKT CQRKFSRSDHLKTHTRTHTGK
Mouse DQLKRHQRRHTGVKPFQCKT CQRKFSRSDHLKTHTRTHTGK
Rat DQLKRHQRRHTGVKPFQCKT CQRKFSRSDHLKTHTRTHTGK
Pig DQLKRHQRRHTGVKPFQCKT CQRKFSRSDHLKTHTRTHTGK
Xenopus tropicalis DQLKRHQRRHTGIKPFQCKT CQRKFSRSDHLKTHTRTHTG-
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
383 – 405 C2H2-type 3
372 – 372 R -> A. Strongly reduced binding of DNA and RNA.
394 – 394 R -> AS. Strongly reduced binding of DNA and RNA.
386 – 388
Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome.
Swiatecka-Urban A.; Mokrzycki M.H.; Kaskel F.; Da Silva F.; Denamur E.;
Pediatr. Nephrol. 16:627-630(2001)
Cited for: VARIANT DDS TYR-388;
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