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UniProtKB/Swiss-Prot P37173: Variant p.Glu526Gln

TGF-beta receptor type-2
Gene: TGFBR2
Variant information

Variant position:  526
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 Glutamate (E) to Glutamine (Q) at position 526 (E526Q, p.Glu526Gln).
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:  Change from medium size and acidic (E) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Involvement in disease:  Esophageal cancer (ESCR) [MIM:133239]: A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO:0000269|PubMed:10789724}. Note=The disease is caused by mutations 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 esophageal cancer.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  526
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  567
The length of the canonical sequence.

Location on the sequence:   NHQGIQMVCETLTECWDHDP  E ARLTAQCVAERFSELEHLDR
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                         NHQGIQMVCETLTECWDHDPEARLTAQCVAERFSELEHLDR

Mouse                         NHQGIQIVCETLTECWDHDPEARLTAQCVAERFSELEHPER

Rat                           NHQGIQIVCETLTECWDHDPEARLTAQCVAERFSELEHPDR

Chicken                       NHQGIQMVCETLIECWDHDPEARLTAQCVAERFSEFKHHDK

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.

TypePositionsDescription
Chain 23 – 567 TGF-beta receptor type-2
Topological domain 188 – 567 Cytoplasmic
Domain 244 – 544 Protein kinase
Region 439 – 567 Sufficient for interaction with CLU
Helix 525 – 527


Literature citations

A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.
Tanaka S.; Mori M.; Mafune K.; Ohno S.; Sugimachi K.;
Br. J. Cancer 82:1557-1560(2000)
Cited for: VARIANT ESOPHAGEAL CANCER GLN-526;

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.