Sequence information
Variant position: 44 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:
STRQKIVELAHSGARPCDIS
R ILQVSNGCVSKILGRYYETG
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 STRQKIVELAHSGARPCDISR ILQVSNGCVSKILGRYYETG
Mouse STRQKIVELAHSGARPCDISR ILQVSNGCVSKILGRYYETG
Rat STRQKIVELAHSGARPCDISR ILQVSNGCVSKILGRYYETG
Bovine STRQKIVELAHSGARPCDISR ILQVSNGCVSKILGRYYETG
Xenopus laevis STRQKIVELAHSGARPCDISR ILQVSNGCVSKILGRYYETG
Zebrafish STRQKIVELAHSGARPCDISR ILQVSNGCVSKILGRYYETG
Drosophila STRQKIVELAHSGARPCDISR ILQVSNGCVSKILGRYYETG
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
Domain
4 – 130
Paired
Alternative sequence
47 – 47
Q -> QTHADAKVQVLDNQN. In isoform 5a.
Helix
39 – 46
Literature citations
Missense mutations in the PAX6 gene in aniridia.
Azuma N.; Hotta Y.; Tanaka H.; Yamada M.;
Invest. Ophthalmol. Vis. Sci. 39:2524-2528(1998)
Cited for: VARIANTS AN1 SER-17; VAL-29; GLN-44 AND HIS-178;
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.