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 (#0001435)
Patient ID Jia et al
Disease Peters anomaly
Reference/Submitter [20405024], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks -
# Reported 1
Population Chinese
Gender -
Sequence Inheritance -
Phenotype Inheritance -
Second PCR -
CIS -
Conserved residue Yes
Related Phenotype Bilateral Peters anomaly, congenital nystagmus, corneal leukoma with anterior synechia, anterior polar cataract, retinal hypoplasia, microphthalmia
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID c.413C>A
DNA change c.51C>A   (View in UCSC Genome Browser)
RNA change -
Protein change p.(Asn17Lys)
RNA information Asn (aac) > Lys (aaa) predicted
Protein information Paired domain missense mutation predicted
DB-ID PAX6_00600
Base number 51
5' Sequence Context TGTCAA
Original Sequence C
Variant Sequence A
3' Sequence Context GGGCGG
Type Substitution
Domain PD
Detection Method Direct Sequencing
RE Site -
Frequency 0/200
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.413C>A c.51C>A - p.(Asn17Lys) Asn (aac) > Lys (aaa) predicted Paired domain missense mutation predicted PAX6_00600 51 TGTCAA C A GGGCGG Substitution PD Direct Sequencing - 0/200 -