MRC Human Genetics Unit LOVD at MRC IGMM Paired box gene 6 (PAX6)	LOVD v.2.0 Build 30 [ Current LOVD status ] | Log in
	Curators: Graeme Grimes, Isabel Hanson, Kathy Williamson and Veronica van Heyningen

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.

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This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.

Patient data (#0000364)
Patient ID	PY2K/457 2/1B
Disease	Cataract, Iris anomaly
Reference/Submitter	Hingorani 2009 2/1B [19218613], United Kingdom (Great Britain):Edinburgh
Template	DNA
Technique	DHPLC
Remarks	Patient 2/1B in Hingorani 2009; mother is patient 2/1A
# Reported	1
Population	-
Gender	Female
Sequence Inheritance	Familial
Phenotype Inheritance	Familial
Second PCR	Yes
CIS	No
Conserved residue	Yes
Related Phenotype	Iris anomaly and early cataracts. Same mutation in similarly affected mother
Unrelated  Phenotype	-
Submitter	Kathy Williamson

Variant data
Allele	Maternal (confirmed)
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	05
Location	Exon
Legacy DNA ID	c.468G>A
DNA change	c.106G>A
RNA change	-
Protein change	p.(Gly36Arg)
RNA information	Gly (ggg) > Arg (agg) predicted
Protein information	Missense substitution of invariant glycine predicted
DB-ID	PAX6_00364
Base number	106
5' Sequence Context	CACAGC
Original Sequence	G
Variant Sequence	A
3' Sequence Context	GGGCCC
Type	Substitution
Domain	PD
Detection Method	DHPLC
RE Site	-
Frequency	-
Remarks	-

1 entry in PAX6

Path.	Allele	Exon	Location	Legacy DNA ID	DNA change	RNA change	Protein change	RNA information	Protein information	DB-ID	Base number	5' Sequence Context	Original Sequence	Variant Sequence	3' Sequence Context	Type	Domain	Detection Method	RE Site	Frequency	Remarks
+/+	Maternal (confirmed)	05	Exon	c.468G>A	c.106G>A	-	p.(Gly36Arg)	Gly (ggg) > Arg (agg) predicted	Missense substitution of invariant glycine predicted	PAX6_00364	106	CACAGC	G	A	GGGCCC	Substitution	PD	DHPLC	-	-	-