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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P29033: Variant p.Val84Leu

Gap junction beta-2 protein
Gene: GJB2
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Variant information Variant position: help 84 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 Valine (V) to Leucine (L) at position 84 (V84L, p.Val84Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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; sorted to the plasma membrane normally and forms gap junctions that were morphologically and electrically indistinguishable from those of control; the mutation reduces the permeability of GJB2 gap junction channels to inositol 1,4,5-trisphosphate (Ins(1,4,5)P3), resulting in blockade of the Ins(1,4,5)P3-induced inward calcium current in neighboring cells. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 84 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 CYDHYFPISHIRLWALQLIF V STPALLVAMHVAYRRHEKKR 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                         CYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKR

Gorilla                       CYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKR

Rhesus macaque                CYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKR

Mouse                         CYDHHFPISHIRLWALQLIMVSTPALLVAMHVAYRRHEKKR

Rat                           CYDHYFPISHIRLWALQLIMVSTPALLVAMHVAYRRHEKKR

Bovine                        CYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYYRHEKKR

Sheep                         CYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYYRHEKKR
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
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley P.M.; Harris D.J.; Comer B.C.; Askew J.W.; Fowler T.; Smith S.D.; Kimberling W.J.;
Am. J. Hum. Genet. 62:792-799(1998)
Cited for: VARIANTS DFNB1A LEU-84; MET-95 AND ARG-113; VARIANTS ILE-27 AND ILE-37; Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.
Beltramello M.; Piazza V.; Bukauskas F.F.; Pozzan T.; Mammano F.;
Nat. Cell Biol. 7:63-69(2005)
Cited for: CHARACTERIZATION OF VARIANT DFNB1A LEU-84;
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.