Sequence information
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:
THFTSQQLQELEATFQRNRY
P DMSTREEIAVWTNLTEARVR
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 THFTSQQLQELEATFQRNRYP DMSTREEIAVWTNLTEARVR
Mouse THFTSQQLQELEATFQRNRYP DMSTREEIAVWTNLTEARVR
Rat THFTSQQLQELEATFQRNRYP DMSTREEIAVWTNLTEARVR
Chicken THFTSQQLQELEATFQRNRYP DMSTREEIAVWTNLTEARVR
Xenopus laevis THFTSQQLQELEATFQRNRYP DMSTREEIAVWTNLTEARVR
Zebrafish THFTSQQLQELEATFQRNRYP DMSTREEIAVWTNLTEARVR
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 – 317
Pituitary homeobox 2
DNA binding
85 – 144
Homeobox
Modified residue
90 – 90
Phosphothreonine; by PKB/AKT2
Literature citations
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;
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.