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

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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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About this overview [Show] The variants below are all in the PAX6 database, matching your query. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than PAX6, are reported as the gene symbol with the number of reported variants between parenthesis. Selecting and clicking a specific line will open a detailed view showing all details per patient. At the bottom of this page a legend is provided with a short explanation of what each field contains. For a more detailed description of each field, please see the PAX6 full legend here.

3 public entries
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Path.	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	Patient ID	Disease	Reference/Submitter	Template	Technique	Remarks	# Reported	Population	Gender	Sequence Inheritance	Phenotype Inheritance	Second PCR	CIS	Conserved residue	Related Phenotype	Unrelated  Phenotype

+/+

04

Intron

IVS4-2A>G

c.11-2A>G

r.spl?

p.?

Splice error predicted

Protein outcome unclear without RNA analysis

PAX6_00067

11

TTCCTC

A

G

G/GTCAC

Substitution

PD

SSCP

AvaI (+)

-

-

DEDOW

Aniridia

[10857836], United Kingdom (Great Britain):Edinburgh

DNA

SSCP

-

1

-

Male

-

Familial

Yes

Unknown

n/a

-

-

+/+

04

Intron

IVS4-2A>G

c.11-2A>G

r.spl?

p.?

Splice defect highly likely

Effect on protein unknown

PAX6_00637

11

TTCCTC

A

G

GGTCAC

Substitution

PD

Direct Sequencing

-

-

-

Case 1-2

Aniridia

[22393275], United Kingdom (Great Britain):Edinburgh

DNA

SEQ

Mother with same mutation has aniridia, nystagmus, cataract and macular hypoplasia

2

Korean

female

Familial

Familial

-

-

-

Aniridia, nystagmus, keratopathy, corneal opacity

-

+/+

04

Intron

IVS4-2A>G

c.11-2A>G

r.spl?

p.?

Splice error predicted

Protein outcome unclear without RNA analysis

PAX6_00671

11

TTCCTC

A

G

G/GTCAC

Substitution

PD

Direct Sequencing

-

-

Variant absent from 100 controls

P2

Aniridia

[21904390], United Kingdom (Great Britain):Edinburgh

DNA

SEQ

-

1

Chinese

-

-

Sporadic

-

-

-

Bilateral complete aniridia, congenital cataract, nystagmus

-

1 - 3

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Legend: [ PAX6 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. Each number covers the exon and the following intron. Exon 5a is classified as part of exon 05. Location: Location of the genomic change. Legacy DNA ID: Legacy mutation nomenclature using the original PAX6 cDNA numbering. DNA change: Variation at DNA level (see full legend for details and examples). RNA change: Variation at RNA level (see full legend for details and examples). Protein change: Variation at protein level (see full legend for details and examples). RNA information: Additional information about RNA change. Protein information: Additional information about protein change. PAX6 DB-ID: DataBase IDentifier; unique identifier for each mutation. Base number: Position of change within cDNA. 5' Sequence Context: Bases immediately 5' of the sequence change. Original Sequence: The original (wild type) sequence. Variant Sequence: The new (mutant or variant) sequence. 3' Sequence Context: Bases immediately 3' of the sequence change. Type: Type of variant at DNA level. Domain: PAX6 protein domain. Detection Method: Technique used to detect the mutation. RE Site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency of polymorphism or variant. Remarks: Other information. Patient ID: Internal patient reference Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference/Submitter: Links to PubMed ID (if available) and Submitter ID Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Population: Patient population Gender: Patient gender Sequence Inheritance: Sequence Inheritance Phenotype Inheritance: Phenotype Inheritance Second PCR: Second PCR CIS: Other Mutation in Cis Conserved residue: Variation affects conserved base or amino acid Related Phenotype: Related Phenotype Unrelated Phenotype: Unrelated Phenotype