Variant position: 118 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 FAWEIRDRLLSEGVCTNDNI PSVSSINRVLRNLASEKQQM--------------------------------G
Mouse FAWEIRDRLLSEGVCTNDNI PSVSSINRVLRNLASEKQQM-
Rat FAWEIRDRLLSEGVCTNDNI PSVSSINRVLRNLASEKQQM-
Bovine FAWEIRDRLLSEGVCTNDNI PSVSSINRVLRNLASEKQQM-
Xenopus laevis FAWEIRDRLLSEGVCTNDNI PSVSSINRVLRNLASDKQQM-
Zebrafish FAWEIRDRLLSEGVCTNDNI PSVSSINRVLRNLASEKQQM-
Drosophila FAWEIRDRLLQENVCTNDNI PSVSSINRVLRNLAAQKEQQS
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
A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.
Sonoda S.; Isashiki Y.; Tabata Y.; Kimura K.; Kakiuchi T.; Ohba N.;
Graefes Arch. Clin. Exp. Ophthalmol. 238:552-558(2000)
Cited for: VARIANT NYSTAGMUS ARG-118;
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