Variant position: 51 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 341 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 ELAQLGIRPCDISRQLRVSH GCVSKILARYNETGSILPGAI
Rhesus macaque ELAQLGIRPCDISRQLRVSH GCVSKILARYNETGSILPGAI
Chimpanzee ELAQLGIRPCDISRQLRVSH GCVSKILARYNETGSILPGAI
Mouse ELAQLGIRPCDISRQLRVSH GCVSKILARYNETGSILPGAI
Rat ELAQLGIRPCDISRQLRVSH GCVSKILARYNETGSILPGAI
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 – 341 Paired box protein Pax-9
4 – 130 Paired
Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia.
Mostowska A.; Kobielak A.; Biedziak B.; Trzeciak W.H.;
Eur. J. Oral Sci. 111:272-276(2003)
Cited for: VARIANT STHAG3 SER-51;
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