Variant position: 59 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 226 The length of the canonical sequence.
Location on the sequence:
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 AAKEVWGDEQADFVCNTLQP GCKNVCYDHYFPISHIRLWAL
Gorilla AAKEVWGDEQADFVCNTLQP GCKNVCYDHYFPISHIRLWAL
Rhesus macaque AAKEVWGDEQADFVCNTLQP GCKNVCYDHYFPISHIRLWAL
Mouse AAKEVWGDEQADFVCNTLQP GCKNVCYDHHFPISHIRLWAL
Rat AAKEVWGDEQADFVCNTLQP GCKNVCYDHYFPISHIRLWAL
Bovine AAKEVWGDEQADFVCNTLQP GCKNVCYDHYFPISHIRLWAL
Sheep AAKEVWGDEQADFVCNTLQP GCKNVCYDHYFPISHIRLWAL
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.
Type Positions Description
1 – 226 Gap junction beta-2 protein
41 – 73 Extracellular
42 – 42 Calcium; shared with neighboring subunit
45 – 45 Calcium; via carbonyl oxygen
47 – 47 Calcium
53 – 180
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;
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.