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 (#0000303)
Patient ID -
Disease Aniridia
Reference/Submitter [12634864], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique DGGE, SSCP
Remarks -
# Reported 1
Population -
Gender -
Sequence Inheritance -
Phenotype Inheritance -
Second PCR Unknown
CIS No
Conserved residue n/a
Related Phenotype -
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID c.472ins31
DNA change c.80_110dup31   (View in UCSC Genome Browser)
RNA change -
Protein change p.(Arg38Glufs*28)
RNA information Predicted frameshift leading to PTC - NMD likely
Protein information Protein synthesis unlikely
DB-ID PAX6_00303
Base number 80
5' Sequence Context CGGGGC
Original Sequence -
Variant Sequence +31
3' Sequence Context CCGGCC
Type Duplication
Domain PD
Detection Method SSCP, DGGE
RE Site -
Frequency -
Remarks Mutation is a precise duplication of bases 80-110 (ie an insertion of 31 bases)

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.472ins31 c.80_110dup31 - p.(Arg38Glufs*28) Predicted frameshift leading to PTC - NMD likely Protein synthesis unlikely PAX6_00303 80 CGGGGC - +31 CCGGCC Duplication PD SSCP, DGGE - - Mutation is a precise duplication of bases 80-110 (ie an insertion of 31 bases)