Variant position: 33 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 GVFVNGRPLPDSTRQKIVEL AHSGARPCDISRILQVSNGCV
Mouse GVFVNGRPLPDSTRQKIVEL AHSGARPCDISRILQVSNGCV
Rat GVFVNGRPLPDSTRQKIVEL AHSGARPCDISRILQVSNGCV
Bovine GVFVNGRPLPDSTRQKIVEL AHSGARPCDISRILQVSNGCV
Xenopus laevis GVFVNGRPLPDSTRQKIVEL AHSGARPCDISRILQVSNGCV
Zebrafish GVFVNGRPLPDSTRQKIVEL AHSGARPCDISRILQVSNGCV
Drosophila GVFVGGRPLPDSTRQKIVEL AHSGARPCDISRILQVSNGCV
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
47 – 47 Q -> QTHADAKVQVLDNQN. In isoform 5a.
23 – 34
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
Hanson I.M.; Churchill A.; Love J.; Axton R.; Moore T.; Clarke M.; Meire F.; van Heyningen V.;
Hum. Mol. Genet. 8:165-172(1999)
Cited for: VARIANTS AN1 PRO-33; PRO-43 AND ASP-126; VARIANT FVH1 VAL-64;
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.