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.

LOVD - Variant listings for PAX6

About this overview [Show]

Patient data (#0000035)
Patient ID SOBHA (II-3)
Disease Peters anomaly
Reference/Submitter [8162071], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique Direct Sequencing
Remarks 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
# Reported 1
Population -
Gender Male
Sequence Inheritance Familial
Phenotype Inheritance Familial
Second PCR Yes
CIS No
Conserved residue Yes
Related Phenotype -
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID c.438C>G
DNA change c.76C>G   (View in UCSC Genome Browser)
RNA change -
Protein change p.(Arg26Gly)
RNA information Arg (cgg) > Gly (ggg) predicted
Protein information Arg26Gly protein has reduced DNA binding activity (Hum Mol Gen 6, 381, 1997)
DB-ID PAX6_00035
Base number 76
5' Sequence Context TCCACC
Original Sequence C
Variant Sequence G
3' Sequence Context GGCAGA
Type Substitution
Domain PD
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks Substitution of arginine by glycine near N-terminal end of first alpha-helix; important for DNA binding

1 entry in PAX6

Path. Allele
Exon Descending
Ascending
Location Descending
Ascending
Legacy DNA ID Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
RNA information Descending
Ascending
Protein information Descending
Ascending
DB-ID Descending
Ascending
Base number Descending
Ascending
5' Sequence Context Descending
Ascending
Original Sequence Descending
Ascending
Variant Sequence Descending
Ascending
3' Sequence Context Descending
Ascending
Type Descending
Ascending
Domain Descending
Ascending
Detection Method Descending
Ascending
RE Site Descending
Ascending
Frequency Descending
Ascending
Remarks Descending
Ascending
+/+ Maternal (confirmed) 05 Exon c.438C>G c.76C>G - p.(Arg26Gly) Arg (cgg) > Gly (ggg) predicted Arg26Gly protein has reduced DNA binding activity (Hum Mol Gen 6, 381, 1997) PAX6_00035 76 TCCACC C G GGCAGA Substitution PD Direct Sequencing - - Substitution of arginine by glycine near N-terminal end of first alpha-helix; important for DNA binding