Sequence information
Variant position: 73 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:
VSKILGRYYETGSIRPRAIG
G SKPRVATPEVVSKIAQYKRE
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 VSKILGRYYETGSIRPRAIGG SKPRVATPEVVSKIAQYKRE
Mouse VSKILGRYYETGSIRPRAIGG SKPRVATPEVVSKIAQYKRE
Rat VSKILGRYYETGSIRPRAIGG SKPRVATPEVVSKIAQYKRE
Bovine VSKILGRYYETGSIRPRAIGG SKPRVATPEVVSKIAQYKRE
Xenopus laevis VSKILGRYYETGSIRPRAIGG SKPRVATPEVVNKIAHYKRE
Zebrafish VSKILGRYYETGSIRPRAIGG SKPRVATPEVVGKIAQYKRE
Drosophila VSKILGRYYETGSIRPRAIGG SKPRVATAEVVSKISQYKRE
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
1 – 422
Paired box protein Pax-6
DNA binding
4 – 130
Paired
Literature citations
Missense mutations in the DNA-binding region and termination codon in PAX6.
Chao L.-Y.; Mishra R.; Strong L.C.; Saunders G.F.;
Hum. Mutat. 21:138-145(2003)
Cited for: VARIANTS AN1 ARG-46; ARG-52; THR-56; ASP-73 AND LYS-87; VARIANT THR-321; CHARACTERIZATION OF VARIANTS AN1 ARG-46; ARG-52; LEU-53; THR-56 AND ASP-73; CHARACTERIZATION OF VARIANT THR-321;
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.