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 (#0000493)
Patient ID 1
Disease Nystagmus, Iris Hypoplasia, Foveal Hypoplasia
Reference/Submitter [15629294], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique RT-PCR, SSCP
Remarks Authors suggest possible use of alternative initiation codon in exon 3. Erroneously entered in old database as IVS+4G>C
# Reported 1
Population -
Gender Female
Sequence Inheritance Familial
Phenotype Inheritance Familial
Second PCR -
CIS No
Conserved residue -
Related Phenotype Affected mother and two maternal aunts have variable iris defects with foveal hypoplasia and nystagmus
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 04
Location Intron
Legacy DNA ID IVS4+5G>C
DNA change c.10+5G>C
RNA change r.-51_10del
Protein change p.?
RNA information Skipping of exon 4 confirmed by RT-PCR
Protein information Possible failure of translation or initiation from cryptic start sites
DB-ID PAX6_00383
Base number 10
5' Sequence Context CA/GTAA
Original Sequence G
Variant Sequence C
3' Sequence Context TGCCTC
Type -
Domain PD
Detection Method SSCP, RT-PCR
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) 04 Intron IVS4+5G>C c.10+5G>C r.-51_10del p.? Skipping of exon 4 confirmed by RT-PCR Possible failure of translation or initiation from cryptic start sites PAX6_00383 10 CA/GTAA G C TGCCTC - PD SSCP, RT-PCR - - -