This database has been closed to new submissions.
The date of last curation was 07 June 2017 and the 'last update' on 04
August 2018 was a partial and uncurated update.
|About this overview [Show]
|This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.|
|Patient data (#0000035)
||, United Kingdom (Great Britain):Edinburgh|
||Patient has Peters anomaly, iris hypoplasia, posterior embryotoxon and glaucoma. Mother (I-2) and sister (II-2) with same mutation have iris hypoplasia and posterior embryotoxon|
|Legacy DNA ID
||c.76C>G (View in UCSC Genome Browser)|
||Arg (cgg) > Gly (ggg) predicted|
||Arg26Gly protein has reduced DNA binding activity (Hum Mol Gen 6, 381, 1997)|
|5' Sequence Context
|3' Sequence Context
||Substitution of arginine by glycine near N-terminal end of first alpha-helix; important for DNA binding|