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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13127: Variant p.His412Gln

RE1-silencing transcription factor
Gene: REST
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Variant information Variant position: help 412 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 Glutamine (Q) at position 412 (H412Q, p.His412Gln). 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 Similar physico-chemical property. Both residues are medium size and polar. 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 WT6. Any additional useful information about the variant.


Sequence information Variant position: help 412 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1097 The length of the canonical sequence.
Location on the sequence: help PVCDYAASKKCNLQYHFKSK H PTCPNKTMDVSKVKLKKTKK 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.
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 – 1097 RE1-silencing transcription factor
Zinc finger 389 – 412 C2H2-type 8
Region 145 – 418 Interaction with ZFP90
Alternative sequence 314 – 1097 Missing. In isoform 2.
Alternative sequence 330 – 1097 Missing. In isoform 3.
Mutagenesis 420 – 420 M -> T. Inhibits transcriptional repression activity.



Literature citations
Mutations in the transcriptional repressor REST predispose to Wilms tumor.
Mahamdallie S.S.; Hanks S.; Karlin K.L.; Zachariou A.; Perdeaux E.R.; Ruark E.; Shaw C.A.; Renwick A.; Ramsay E.; Yost S.; Elliott A.; Birch J.; Capra M.; Gray J.; Hale J.; Kingston J.; Levitt G.; McLean T.; Sheridan E.; Renwick A.; Seal S.; Stiller C.; Sebire N.; Westbrook T.F.; Rahman N.;
Nat. Genet. 47:1471-1474(2015)
Cited for: INVOLVEMENT IN WT6; VARIANTS WT6 PRO-160; TYR-290; ARG-322 AND GLN-412; CHARACTERIZATION OF VARIANT PRO-160; TYR-290 AND ARG-322; FUNCTION; MUTAGENESIS OF GLU-91; MET-420; SER-593; ALA-642 AND HIS-918;
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.