Variant position: 53 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 AHSGARPCDISRILQVSNGC VSKILGRYYETGSIRPRAIGG
Mouse AHSGARPCDISRILQVSNGC VSKILGRYYETGSIRPRAIGG
Rat AHSGARPCDISRILQVSNGC VSKILGRYYETGSIRPRAIGG
Bovine AHSGARPCDISRILQVSNGC VSKILGRYYETGSIRPRAIGG
Xenopus laevis AHSGARPCDISRILQVSNGC VSKILGRYYETGSIRPRAIGG
Zebrafish AHSGARPCDISRILQVSNGC VSKILGRYYETGSIRPRAIGG
Drosophila AHSGARPCDISRILQVSNGC VSKILGRYYETGSIRPRAIGG
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
4 – 130 Paired
7 – 63 PAI subdomain
47 – 47 Q -> QTHADAKVQVLDNQN. In isoform 5a.
50 – 63
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
Groenskov K.; Rosenberg T.; Sand A.; Broendum-Nielsen K.;
Eur. J. Hum. Genet. 7:274-286(1999)
Cited for: ALTERNATIVE SPLICING; VARIANTS AN1 SER-42; LEU-53; PRO-63; GLU-79 AND GLN-208;
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;
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.