UniProtKB/Swiss-Prot P20333: Variant p.Glu232Lys

Tumor necrosis factor receptor superfamily member 1B
Gene: TNFRSF1B
Chromosomal location: 1p36.2-p36.3
Variant information

Variant position:  232
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glutamate (E) to Lysine (K) at position 232 (E232K, p.Glu232Lys).
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 large size and basic (K)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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

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



Sequence information

Variant position:  232
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  461
The length of the canonical sequence.

Location on the sequence:   GAVHLPQPVSTRSQHTQPTP  E PSTAPSTSFLLPMGPSPPAE
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                         GAVHLPQPVSTRSQHTQPTPEPSTAPSTSFLLPMGPSPPAE

Mouse                         RTLYVSQPEPTRSQPLDQEPGPSQTPS--ILTSLGSTPIIE

Rat                           RTIYVSQPEPTRSQPMDQEPGPSQTPH--IPVSLGSTPIIE

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 – 461 Tumor necrosis factor receptor superfamily member 1b, membrane form
Topological domain 23 – 257 Extracellular


Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MET-187; ARG-196; LYS-232; THR-236; PRO-264 AND ARG-295;

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-196; LYS-232; PRO-269 AND ARG-301;

New single nucleotide polymorphisms in the coding region of human TNFR2: association with systemic lupus erythematosus.
Tsuchiya N.; Komata T.; Matsushita M.; Ohashi J.; Tokunaga K.;
Genes Immun. 1:501-503(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 154-183; VARIANTS ARG-196 AND LYS-232;

Association of tumor necrosis factor receptor type II polymorphism 196R with systemic lupus erythematosus in the Japanese: molecular and functional analysis.
Morita C.; Horiuchi T.; Tsukamoto H.; Hatta N.; Kikuchi Y.; Arinobu Y.; Otsuka T.; Sawabe T.; Harashima S.; Nagasawa K.; Niho Y.;
Arthritis Rheum. 44:2819-2827(2001)
Cited for: VARIANTS ARG-196 AND LYS-232;

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.