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UniProtKB/Swiss-Prot Q13127: Variant p.His412Gln

RE1-silencing transcription factor
Gene: REST
Chromosomal location: 4q12
Variant information

Variant position:  412
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  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

Involvement in disease:  Wilms tumor 6 (WT6) [MIM:616806]: A pediatric malignancy of kidney, and the most common childhood abdominal malignancy. It is caused by the uncontrolled multiplication of renal stem, stromal, and epithelial cells. {ECO:0000269|PubMed:26551668}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In WT6.
Any additional useful information about the variant.

Sequence information

Variant position:  412
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1097
The length of the canonical 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.

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.

Chain 1 – 1097 RE1-silencing transcription factor
Zinc finger 389 – 412 C2H2-type 8
Region 145 – 418 Interaction with ZFP90
Compositional bias 400 – 603 Lys-rich
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)

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.