Variant position: 139 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 261 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 EDIKKQKVRIEGSLWWTYTS SIFFRIIFEAAFMYVFYFLYN
Mouse EDIKRQKVRIEGSLWWTYTS SIFFRIIFEAAFMYVFYFLYN
Bovine EDIKRQKVRIEGSLWWTYTS SIFFRIVFEAAFMYVFYFLYN
Chicken EEIRTQRFRIEGTLWWTYTC SIFFRLVFEAVFMYAFYFMYD
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 – 261 Gap junction beta-6 protein
132 – 154 Helical
Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.
Kelley P.M.; Abe S.; Askew J.W.; Smith S.D.; Usami S.; Kimberling W.J.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-139 AND THR-199;
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