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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y6H8: Variant p.Pro59Leu

Gap junction alpha-3 protein
Gene: GJA3
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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 Proline (P) to Leucine (L) at position 59 (P59L, p.Pro59Leu). 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 -3 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 CTRCT14; nuclear punctate cataract. 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 435 The length of the canonical sequence.
Location on the sequence: help AAAEDVWGDEQSDFTCNTQQ P GCENVCYDRAFPISHIRFWA 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                         AAAEDVWGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWA

Mouse                         AAAEEVWGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWA

Rat                           AAAEEVWGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWA

Bovine                        AAAEEVWGDEQSDFTCNTQQPGCENVCYDRAFPISHVRFWV

Sheep                         AAAEEVWGDEQSDFTCNTQQPGCENVCYDRAFPISHVRFWV

Chicken                       AAAEEVWGDEQSDFTCNTQQPGCENVCYDKAFPISHIRFWV
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 2 – 435 Gap junction alpha-3 protein
Topological domain 41 – 71 Extracellular
Disulfide bond 54 – 192
Mutagenesis 76 – 76 R -> EK. Abolishes formation of gap junctions. No significant effect on formation of functional hemichannels.



Literature citations
A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant 'nuclear punctate' cataracts linked to chromosome 13q.
Bennett T.M.; Mackay D.S.; Knopf H.L.S.; Shiels A.;
Mol. Vis. 10:376-382(2004)
Cited for: VARIANT CTRCT14 LEU-59; Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
Hansen L.; Mikkelsen A.; Nuernberg P.; Nuernberg G.; Anjum I.; Eiberg H.; Rosenberg T.;
Invest. Ophthalmol. Vis. Sci. 50:3291-3303(2009)
Cited for: VARIANTS CTRCT14 LEU-59 AND HIS-76; Mutation analysis of 12 genes in Chinese families with congenital cataracts.
Sun W.; Xiao X.; Li S.; Guo X.; Zhang Q.;
Mol. Vis. 17:2197-2206(2011)
Cited for: VARIANT CTRCT14 LEU-59;
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.