Sequence information
Variant position: 59 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 382 The length of the canonical sequence.
Location on the sequence:
TAVESAWGDEQSAFRCNTQQ
P GCENVCYDKSFPISHVRFWV
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 TAVESAWGDEQSAFRCNTQQP GCENVCYDKSFPISHVRFWV
Mouse TAVESAWGDEQSAFRCNTQQP GCENVCYDKSFPISHVRFWV
Rat TAVESAWGDEQSAFRCNTQQP GCENVCYDKSFPISHVRFWV
Pig TAVESAWGDEQSAFRCNTQQP GCENVCYDKSFPISHVRFWV
Bovine TAVESAWGDEQSAFRCNTQQP GCENVCYDKSFPISHVRFWV
Rabbit TAVESAWGDEQSAFRCNTQQP GCENVCYDKSFPISHVRFWV
Chicken TAVESAWGDEQSAFRCNTQQP GCENVCYDKSFPISHVRFWV
Xenopus laevis TAVESAWGDEQSAFVCNTQQP GCENVCYDKSFPISHVRFWV
Zebrafish TAVESAWGDEQSAFKCNTQQP GCENVCYDKSFPISHVRFWV
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
Chain
2 – 382
Gap junction alpha-1 protein
Topological domain
45 – 76
Extracellular
Disulfide bond
54 – 192
Literature citations
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.
Vasconcellos J.P.C.; Melo M.B.; Schimiti R.B.; Bressanim N.C.; Costa F.F.; Costa V.P.;
Arch. Ophthalmol. 123:1422-1426(2005)
Cited for: VARIANT ODDD HIS-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.