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 (#0000415)
Patient ID PY2K/015 AMBRI
Disease Aniridia, Glaucoma
Reference/Submitter [16712695], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique DHPLC
Remarks Alternate patient ID is MEP3-10
# Reported 1
Population -
Gender Female
Sequence Inheritance -
Phenotype Inheritance Familial
Second PCR Yes
CIS -
Conserved residue Yes
Related Phenotype Glaucoma secondary to bilateral aniridia. Probable familial case - deceased father had nystagmus and unilateral retinal detachment
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID c.468G>T
DNA change c.106G>T   (View in UCSC Genome Browser)
RNA change -
Protein change p.(Gly36Trp)
RNA information Gly (ggg) > Trp (ugg) predicted
Protein information Predicted substitution of invariant glycine in paired domain
DB-ID PAX6_00415
Base number 106
5' Sequence Context CACAGC
Original Sequence G
Variant Sequence T
3' Sequence Context GGGCCC
Type Substitution
Domain PD
Detection Method DHPLC
RE Site -
Frequency -
Remarks -

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
+/+ Paternal (inferred) 05 Exon c.468G>T c.106G>T - p.(Gly36Trp) Gly (ggg) > Trp (ugg) predicted Predicted substitution of invariant glycine in paired domain PAX6_00415 106 CACAGC G T GGGCCC Substitution PD DHPLC - - -