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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P29033: Variant p.Thr86Arg

Gap junction beta-2 protein
Gene: GJB2
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Variant information Variant position: help 86 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 Threonine (T) to Arginine (R) at position 86 (T86R, p.Thr86Arg). 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 (T) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In DFNB1A; does not form gap junctions since the mutated protein is confined in the cytoplasm and not transported to the cell membrane; when the mutation is coexpressed with the wild-type protein ionic and biochemical coupling is normal consistent with the recessive nature of the mutation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 86 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 226 The length of the canonical sequence.
Location on the sequence: help DHYFPISHIRLWALQLIFVS T PALLVAMHVAYRRHEKKRKF 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                         DHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKF

Gorilla                       DHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKF

Rhesus macaque                DHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKF

Mouse                         DHHFPISHIRLWALQLIMVSTPALLVAMHVAYRRHEKKRKF

Rat                           DHYFPISHIRLWALQLIMVSTPALLVAMHVAYRRHEKKRKF

Bovine                        DHYFPISHIRLWALQLIFVSTPALLVAMHVAYYRHEKKRKF

Sheep                         DHYFPISHIRLWALQLIFVSTPALLVAMHVAYYRHEKKRKF
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 – 226 Gap junction beta-2 protein
Transmembrane 74 – 94 Helical
Disulfide bond 53 – 180
Disulfide bond 60 – 174
Disulfide bond 64 – 169
Helix 73 – 102



Literature citations
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A.; Yuge I.; Kimura S.; Namba A.; Abe S.; Van Laer L.; Van Camp G.; Usami S.;
Hum. Genet. 112:329-333(2003)
Cited for: VARIANTS DEAFNESS GLU-45; THR-71; ARG-86 AND TRP-143; VARIANTS ILE-27; ILE-37; GLY-114; ASN-123; LEU-191 AND THR-203; Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
Choi S.-Y.; Park H.-J.; Lee K.Y.; Dinh E.H.; Chang Q.; Ahmad S.; Lee S.H.; Bok J.; Lin X.; Kim U.-K.;
Hum. Mutat. 30:E716-E727(2009)
Cited for: VARIANT DFNA3A GLU-46; VARIANT DFNB1A ARG-86; CHARACTERIZATION OF VARIANT DFNA3A GLU-46; CHARACTERIZATION OF VARIANT DFNB1A ARG-86; FUNCTION; SUBCELLULAR LOCATION;
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.