Variant position: 366 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 KHTGEKPYQCDFKDCERRFS RSDQLKRHQRRHTGVKPFQCK
Mouse KHTGEKPYQCDFKDCERRFS RSDQLKRHQRRHTGVKPFQCK
Rat KHTGEKPYQCDFKDCERRFS RSDQLKRHQRRHTGVKPFQCK
Pig KHTGEKPYQCDFKDCERRFS RSDQLKRHQRRHTGVKPFQCK
Xenopus tropicalis KHTGEKPYQCDFKDCERRFS RSDQLKRHQRRHTGIKPFQCK
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
353 – 377 C2H2-type 2
366 – 366 R -> A. Strongly reduced binding of DNA and RNA.
372 – 372 R -> A. Strongly reduced binding of DNA and RNA.
363 – 366
Zinc finger point mutations within the WT1 gene in Wilms tumor patients.
Little M.H.; Prosser J.; Condie A.; Smith P.J.; van Heyningen V.; Hastie N.D.;
Proc. Natl. Acad. Sci. U.S.A. 89:4791-4795(1992)
Cited for: VARIANT WT1 CYS-366;
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.
Jeanpierre C.; Denamur E.; Henry I.; Cabanis M.-O.; Luce S.; Cecille A.; Elion J.; Peuchmaur M.; Loirat C.; Niaudet P.; Gubler M.-C.; Junien C.;
Am. J. Hum. Genet. 62:824-833(1998)
Cited for: VARIANTS NPHS4 TYR-377; LEU-383 AND ASN-396; VARIANTS DDS CYS-366; GLN-394; TRP-394 AND PRO-398; VARIANT WT1 ASN-223;
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;
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations.
Suri M.; Kelehan P.; O'neill D.; Vadeyar S.; Grant J.; Ahmed S.F.; Tolmie J.; McCann E.; Lam W.; Smith S.; FitzPatrick D.; Hastie N.D.; Reardon W.;
Am. J. Med. Genet. A 143:2312-2320(2007)
Cited for: VARIANTS MEACHS CYS-366 AND TRP-394;
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.