Variant position: 110 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 317 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 THFTSQQLQELEATFQRNRY PDMSTREEIAVWTNLTEARVR
Mouse THFTSQQLQELEATFQRNRY PDMSTREEIAVWTNLTEARVR
Rat THFTSQQLQELEATFQRNRY PDMSTREEIAVWTNLTEARVR
Chicken THFTSQQLQELEATFQRNRY PDMSTREEIAVWTNLTEARVR
Xenopus laevis THFTSQQLQELEATFQRNRY PDMSTREEIAVWTNLTEARVR
Zebrafish THFTSQQLQELEATFQRNRY PDMSTREEIAVWTNLTEARVR
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 – 317 Pituitary homeobox 2
85 – 144 Homeobox
90 – 90 Phosphothreonine; by PKB/AKT2
Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome.
Ophthalmic Res. 34:324-326(2002)
Cited for: VARIANTS RIEG1 LEU-110; CYS-136; VAL-151 AND THR-154;
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
Weisschuh N.; Dressler P.; Schuettauf F.; Wolf C.; Wissinger B.; Gramer E.;
Invest. Ophthalmol. Vis. Sci. 47:3846-3852(2006)
Cited for: VARIANTS RIEG1 LEU-110 AND ARG-110;
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