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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P19544: Variant p.Arg366His

Wilms tumor protein
Gene: WT1
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Variant information Variant position: help 366 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Arginine (R) to Histidine (H) at position 366 (R366H, p.Arg366His). 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: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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
Variant description: help In DDS and WT1. Any additional useful information about the variant.


Sequence information Variant position: help 366 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 449 The length of the canonical sequence.
Location on the sequence: help KHTGEKPYQCDFKDCERRFS R SDQLKRHQRRHTGVKPFQCK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQCK

Mouse                         KHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQCK

Rat                           KHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQCK

Pig                           KHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQCK

Xenopus tropicalis            KHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGIKPFQCK
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 449 Wilms tumor protein
Zinc finger 353 – 377 C2H2-type 2
Mutagenesis 366 – 366 R -> A. Strongly reduced binding of DNA and RNA.
Mutagenesis 372 – 372 R -> A. Strongly reduced binding of DNA and RNA.
Beta strand 363 – 366



Literature citations
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
Kikuchi H.; Takata A.; Akasaka Y.; Fukuzawa R.; Yoneyama H.; Kurosawa Y.; Honda M.; Kamiyama Y.; Hata J.;
J. Med. Genet. 35:45-48(1998)
Cited for: VARIANTS DDS TYR-355; HIS-366 AND ARG-385; Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.
Schumacher V.; Schaerer K.; Wuehl E.; Altrogge H.; Bonzel K.-E.; Guschmann M.; Neuhaus T.J.; Pollastro R.M.; Kuwertz-Broeking E.; Bulla M.; Tondera A.-M.; Mundel P.; Helmchen U.; Waldherr R.; Weirich A.; Royer-Pokora B.;
Kidney Int. 53:1594-1600(1998)
Cited for: VARIANTS NPHS4 LEU-364; HIS-366; CYS-379; ARG-385; GLN-394; TRP-394 AND ASN-396; Constitutional WT1 correlate with clinical features in children with progressive nephropathy.
Takata A.; Kikuchi H.; Fukuzawa R.; Ito S.; Honda M.; Hata J.;
J. Med. Genet. 37:698-701(2000)
Cited for: VARIANTS DDS ARG-342; TYR-355; HIS-366; ARG-385; PHE-388; TRP-394 AND ASN-396; VARIANT NPHS4 GLN-312; 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;
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.