Variant position: 136 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 EEIAVWTNLTEARVRVWFKN RRAKWRKRERNQQAELCKNGF
Mouse EEIAVWTNLTEARVRVWFKN RRAKWRKRERNQQAELCKNGF
Rat EEIAVWTNLTEARVRVWFKN RRAKWRKRERNQQAELCKNGF
Chicken EEIAVWTNLTEARVRVWFKN RRAKWRKRERNQQAELCKNGF
Xenopus laevis EEIAVWTNLTEARVRVWFKN RRAKWRKRERNQQAELCKNGF
Zebrafish EEIAVWTNLTEARVRVWFKN RRAKWRKRERNQQAELCKNGF
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.
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.
Perveen R.; Lloyd I.C.; Clayton-Smith J.; Churchill A.; van Heyningen V.; Hanson I.; Taylor D.; McKeown C.; Super M.; Kerr B.; Winter R.; Black G.C.M.;
Invest. Ophthalmol. Vis. Sci. 41:2456-2460(2000)
Cited for: VARIANTS RIEG1 GLU-134 AND CYS-136;
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;
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.