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 (#0001892)
Patient ID Patient 3
Disease -
Reference/Submitter [27081561], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Patient has two de novo mutations. Based on the phenotype, they are probably on the same allele, but this has not been confirmed.
# Reported 1
Population -
Gender male
Sequence Inheritance -
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue -
Related Phenotype Total aniridia, bilateral cataract, foveal hypoplasia
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID -
DNA change c.79C>T
RNA change -
Protein change p.(Gln27*)
RNA information Gln (cag) > Ter (uag) predicted
Protein information NMD predicted - protein synthesis unlikely
DB-ID PAX6_00851
Base number 79
5' Sequence Context ACCCGG
Original Sequence C
Variant Sequence T
3' Sequence Context AGAAGA
Type Substitution
Domain PD
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks -

2 entries 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.79C>T - p.(Gln27*) Gln (cag) > Ter (uag) predicted NMD predicted - protein synthesis unlikely PAX6_00851 79 ACCCGG C T AGAAGA Substitution PD Direct Sequencing - - -
+/+ Unknown 06 Intron IVS6+1G>A c.357+1G>A - - By analogy with PAX6_00007, probably activates cryptic splice site within exon 6 Predicted in-frame deletion of last 36 aa of exon 6 PAX6_00852 357 CCAAGC/ G A TAAGTT Substitution PD Direct Sequencing - - -