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.

About this overview [Show]
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 (#0000172)
Patient ID	372-97
Disease	Aniridia
Reference/Submitter	G Wildhart, unpublished, Germany:Mainz
Template	DNA
Technique	Unknown
Remarks	Isoleucine is conserved at this position (in the first alpha helix of the N-terminal subdomain) in all paired domains sequenced to date.
# Reported	1
Population	-
Gender	Female
Sequence Inheritance	-
Phenotype Inheritance	Sporadic
Second PCR	Unknown
CIS	Unknown
Conserved residue	Yes
Related Phenotype	-
Unrelated  Phenotype	-
Submitter	Gabriele Wildhardt

Variant data
Allele	Unknown
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	05
Location	Exon
Legacy DNA ID	c.448T>G
DNA change	c.86T>G   (View in UCSC Genome Browser)
RNA change	-
Protein change	p.(Ile29Ser)
RNA information	Ile (auu) > Ser (agu) predicted
Protein information	Substitution of invariant isoleucine predicted
DB-ID	PAX6_00172
Base number	86
5' Sequence Context	AGAAGA
Original Sequence	T
Variant Sequence	G
3' Sequence Context	TTGTAG
Type	Substitution
Domain	PD
Detection Method	Unknown
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
+/+	Unknown	05	Exon	c.448T>G	c.86T>G	-	p.(Ile29Ser)	Ile (auu) > Ser (agu) predicted	Substitution of invariant isoleucine predicted	PAX6_00172	86	AGAAGA	T	G	TTGTAG	Substitution	PD	Unknown	-	-	-