Variant position: 119 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 AWEIRDRLLSEGVCTNDNIP SVSSINRVLRNLASEKQQM--------------------------------GA
Mouse AWEIRDRLLSEGVCTNDNIP SVSSINRVLRNLASEKQQM--
Rat AWEIRDRLLSEGVCTNDNIP SVSSINRVLRNLASEKQQM--
Bovine AWEIRDRLLSEGVCTNDNIP SVSSINRVLRNLASEKQQM--
Xenopus laevis AWEIRDRLLSEGVCTNDNIP SVSSINRVLRNLASDKQQM--
Zebrafish AWEIRDRLLSEGVCTNDNIP SVSSINRVLRNLASEKQQM--
Drosophila AWEIRDRLLQENVCTNDNIP SVSSINRVLRNLAAQKEQQST
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
82 – 130 RED subdomain
Cited for: VARIANTS AN1 SER-29; ARG-119 AND ALA-353;
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
Malandrini A.; Mari F.; Palmeri S.; Gambelli S.; Berti G.; Bruttini M.; Bardelli A.M.; Williamson K.; van Heyningen V.; Renieri A.;
Clin. Genet. 60:151-154(2001)
Cited for: VARIANT AN1 ARG-119;
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