Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P19544: Variant p.His397Pro

Wilms tumor protein
Gene: WT1
Feedback?
Variant information Variant position: help 397 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 Histidine (H) to Proline (P) at position 397 (H397P, p.His397Pro). 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 medium size and polar (H) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 NPHS4. Any additional useful information about the variant.


Sequence information Variant position: help 397 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 HTGVKPFQCKTCQRKFSRSD H LKTHTRTHTGKTSEKPFSCR 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                         HTGVKPFQCKTCQRKFSRSDHLKTHTRTHTGKTSEKPFSCR

Mouse                         HTGVKPFQCKTCQRKFSRSDHLKTHTRTHTGKTSEKPFSCR

Rat                           HTGVKPFQCKTCQRKFSRSDHLKTHTRTHTGKTSEKPFSCR

Pig                           HTGVKPFQCKTCQRKFSRSDHLKTHTRTHTGKTSEKPFSCR

Xenopus tropicalis            HTGIKPFQCKTCQRKFSRSDHLKTHTRTHTG---EKPFSCR
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 383 – 405 C2H2-type 3
Region 393 – 401 Important for interaction with target DNA
Mutagenesis 394 – 394 R -> AS. Strongly reduced binding of DNA and RNA.
Helix 395 – 401



Literature citations
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.
Ruf R.G.; Schultheiss M.; Lichtenberger A.; Karle S.M.; Zalewski I.; Mucha B.; Everding A.S.; Neuhaus T.; Patzer L.; Plank C.; Haas J.P.; Ozaltin F.; Imm A.; Fuchshuber A.; Bakkaloglu A.; Hildebrandt F.;
Kidney Int. 66:564-570(2004)
Cited for: VARIANTS NPHS4 ARG-388 AND PRO-397; Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Buescher A.K.; Kranz B.; Buescher R.; Hildebrandt F.; Dworniczak B.; Pennekamp P.; Kuwertz-Broeking E.; Wingen A.M.; John U.; Kemper M.; Monnens L.; Hoyer P.F.; Weber S.; Konrad M.;
Clin. J. Am. Soc. Nephrol. 5:2075-2084(2010)
Cited for: VARIANTS NPHS4 ARG-388; GLN-394; TRP-394 AND PRO-397;
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.