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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P29033: Variant p.Gly59Ala

Gap junction beta-2 protein
Gene: GJB2
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Variant information Variant position: help 59 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 Glycine (G) to Alanine (A) at position 59 (G59A, p.Gly59Ala). 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 glycine (G) to small size and hydrophobic (A) 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 PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 59 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 AAKEVWGDEQADFVCNTLQP G CKNVCYDHYFPISHIRLWAL 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                         AAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWAL

Gorilla                       AAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWAL

Rhesus macaque                AAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWAL

Mouse                         AAKEVWGDEQADFVCNTLQPGCKNVCYDHHFPISHIRLWAL

Rat                           AAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWAL

Bovine                        AAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWAL

Sheep                         AAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWAL
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
Topological domain 41 – 73 Extracellular
Binding site 42 – 42 in other chain
Binding site 45 – 45
Binding site 47 – 47
Disulfide bond 53 – 180



Literature citations
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).
Heathcote K.; Syrris P.; Carter N.D.; Patton M.A.;
J. Med. Genet. 37:50-51(2000)
Cited for: VARIANT PPKDFN ALA-59; Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
Marziano N.K.; Casalotti S.O.; Portelli A.E.; Becker D.L.; Forge A.;
Hum. Mol. Genet. 12:805-812(2003)
Cited for: CHARACTERIZATION OF VARIANTS DFNA3A SER-44 AND TRP-75; CHARACTERIZATION OF VARIANT PPKDFN ALA-59; CHARACTERIZATION OF VARIANT VOWNKL HIS-66;
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.