Variant position: 422 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 422 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 S----------------VPVQVPGSE----PDMSQY-----WPRL Q
Xenopus laevis S----------------VPVQ
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 – 422 Paired box protein Pax-6
279 – 422 Pro/Ser/Thr-rich
Missense mutation at the C-terminus of the PAX6 gene in ocular anterior segment anomalies.
Azuma N.; Yamada M.;
Invest. Ophthalmol. Vis. Sci. 39:828-830(1998)
Cited for: VARIANT EYE MALFORMATIONS ARG-422;
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
Singh S.; Chao L.-Y.; Mishra R.; Davies J.; Saunders G.F.;
Hum. Mol. Genet. 10:911-918(2001)
Cited for: VARIANTS AN1 GLN-375 AND ARG-422;
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