Variant position: 33 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 435 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 NAQEHSTVIGKVWLTVLFIF RILVLGAAAEDVWGDEQSDFT
Mouse NAQEHSTVIGKVWLTVLFIF RILVLGAAAEEVWGDEQSDFT
Rat NAQEHSTVIGKVWLTVLFIF RILVLGAAAEEVWGDEQSDFT
Bovine NAQEHSTVIGKVWLTVLFIF RILVLGAAAEEVWGDEQSDFT
Sheep NAQEHSTVIGKVWLTVLFIF RILVLGAAAEEVWGDEQSDFT
Chicken NAQEHSTVIGKVWLTVLFIF RILVLGAAAEEVWGDEQSDFT
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
2 – 435 Gap junction alpha-3 protein
20 – 40 Helical
A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.
Guleria K.; Sperling K.; Singh D.; Varon R.; Singh J.R.; Vanita V.;
Mol. Vis. 13:1657-1665(2007)
Cited for: VARIANT CTRCT14 LEU-33;
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