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 (#0000159)
Patient ID SACUP
Disease Congenital cataract, Partial aniridia
Reference/Submitter [9931324], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SSCP
Remarks -
# Reported 1
Population -
Gender Female
Sequence Inheritance Familial
Phenotype Inheritance Familial
Second PCR Yes
CIS Unknown
Conserved residue Yes
Related Phenotype Partial aniridia with significant iris remnants; congenital cataracts. Father (BACUP) similarly affected
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID c.459G>C
DNA change c.97G>C
RNA change -
Protein change p.(Ala33Pro)
RNA information Ala (gcu) > Pro (ccu) predicted
Protein information Missense mutation predicted
DB-ID PAX6_00159
Base number 97
5' Sequence Context GAGCTA
Original Sequence G
Variant Sequence C
3' Sequence Context CTCACA
Type Substitution
Domain PD
Detection Method SSCP
RE Site -
Frequency -
Remarks Introduction of proline predicted to disrupt first alpha-helix of paired domain

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
+/+ Paternal (confirmed) 05 Exon c.459G>C c.97G>C - p.(Ala33Pro) Ala (gcu) > Pro (ccu) predicted Missense mutation predicted PAX6_00159 97 GAGCTA G C CTCACA Substitution PD SSCP - - Introduction of proline predicted to disrupt first alpha-helix of paired domain