Variant position: 108 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 QRTHFTSQQLQELEATFQRN RYPDMSTREEIAVWTNLTEAR
Mouse QRTHFTSQQLQELEATFQRN RYPDMSTREEIAVWTNLTEAR
Rat QRTHFTSQQLQELEATFQRN RYPDMSTREEIAVWTNLTEAR
Chicken QRTHFTSQQLQELEATFQRN RYPDMSTREEIAVWTNLTEAR
Xenopus laevis QRTHFTSQQLQELEATFQRN RYPDMSTREEIAVWTNLTEAR
Zebrafish QRTHFTSQQLQELEATFQRN RYPDMSTREEIAVWTNLTEAR
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
Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant.
Doerdelmann T.; Kojetin D.J.; Baird-Titus J.M.; Solt L.A.; Burris T.P.; Rance M.;
Cited for: STRUCTURE BY NMR OF 85-144 OF WILD-TYPE AND MUTANT HIS-108 IN COMPLEX WITH DNA; VARIANT RDC HIS-108;
Mutation in PITX2 is associated with ring dermoid of the cornea.
Xia K.; Wu L.; Liu X.; Xi X.; Liang D.; Zheng D.; Cai F.; Pan Q.; Long Z.; Dai H.; Hu Z.; Tang B.; Zhang Z.; Xia J.;
J. Med. Genet. 41:E129-E129(2004)
Cited for: VARIANT RDC HIS-108;
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