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 (#0000364)
Patient ID PY2K/457 2/1B
Disease Cataract, Iris anomaly
Reference/Submitter Hingorani 2009 2/1B [19218613], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique DHPLC
Remarks Patient 2/1B in Hingorani 2009; mother is patient 2/1A
# Reported 1
Population -
Gender Female
Sequence Inheritance Familial
Phenotype Inheritance Familial
Second PCR Yes
CIS No
Conserved residue Yes
Related Phenotype Iris anomaly and early cataracts. Same mutation in similarly affected mother
Unrelated  Phenotype -
Submitter Kathy Williamson

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID c.468G>A
DNA change c.106G>A
RNA change -
Protein change p.(Gly36Arg)
RNA information Gly (ggg) > Arg (agg) predicted
Protein information Missense substitution of invariant glycine predicted
DB-ID PAX6_00364
Base number 106
5' Sequence Context CACAGC
Original Sequence G
Variant Sequence A
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
+/+ Maternal (confirmed) 05 Exon c.468G>A c.106G>A - p.(Gly36Arg) Gly (ggg) > Arg (agg) predicted Missense substitution of invariant glycine predicted PAX6_00364 106 CACAGC G A GGGCCC Substitution PD DHPLC - - -