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 (#0000411)
Patient ID D2002/53
Disease Nystagmus, Ectopia Pupillae
Reference/Submitter [16712695], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique DHPLC
Remarks In the genomic sequence trace (from blood DNA) the mutant allele was present at approximately 10%. Therefore this individual may be a somatic mosaic for the mutation
# Reported 1
Population -
Gender Female
Sequence Inheritance -
Phenotype Inheritance -
Second PCR Yes
CIS -
Conserved residue Yes
Related Phenotype Variant aniridia: nystagmus with nasally displaced pupils
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID c.388A>T
DNA change c.26A>T   (View in UCSC Genome Browser)
RNA change -
Protein change p.(Asn9Ile)
RNA information Asn (aau) > Ile (auu) predicted
Protein information Predicted missense mutation. Asn9 is conserved in all paired domains
DB-ID PAX6_00411
Base number 26
5' Sequence Context GAGTGA
Original Sequence A
Variant Sequence T
3' Sequence Context TCAGCT
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
+/+ Unknown 05 Exon c.388A>T c.26A>T - p.(Asn9Ile) Asn (aau) > Ile (auu) predicted Predicted missense mutation. Asn9 is conserved in all paired domains PAX6_00411 26 GAGTGA A T TCAGCT Substitution PD DHPLC - - -