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]

2 public entries
entries per page


Path. Hide Path. column Descending
Ascending

Exon Hide Exon column Descending
Ascending

Location Hide Location column Descending
Ascending

Legacy DNA ID Hide Legacy DNA ID column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein change Hide Protein change column Descending
Ascending

RNA information Hide RNA information column Descending
Ascending

Protein information Hide Protein information column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

Base number Hide Base number column Descending
Ascending

5' Sequence Context Hide 5' Sequence Context column Descending
Ascending

Original Sequence Hide Original Sequence column Descending
Ascending

Variant Sequence Hide Variant Sequence column Descending
Ascending

3' Sequence Context Hide 3' Sequence Context column Descending
Ascending

Type Hide Type column Descending
Ascending

Domain Hide Domain column Descending
Ascending

Detection Method Hide Detection Method column Descending
Ascending

RE Site Hide RE Site column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

Remarks Hide Remarks column Descending
Ascending

Patient ID Hide Patient ID column Descending
Ascending

Disease Hide Disease column Descending
Ascending

Reference/Submitter Hide Reference/Submitter column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Remarks Hide Remarks column Descending
Ascending

# Reported Hide # Reported column Descending
Ascending

Population Hide Population column Descending
Ascending

Gender Hide Gender column Descending
Ascending

Sequence Inheritance Hide Sequence Inheritance column Descending
Ascending

Phenotype Inheritance Hide Phenotype Inheritance column Descending
Ascending

Second PCR Hide Second PCR column Descending
Ascending

CIS Hide CIS column Descending
Ascending

Conserved residue Hide Conserved residue column Descending
Ascending

Related Phenotype Hide Related Phenotype column Descending
Ascending

Unrelated  Phenotype Hide Unrelated  Phenotype column Descending
Ascending
?/? 05 Exon c.412A>G c.50A>G
    + c.85A>G, c.141+14_+25dup12
- p.(Asn17Ser) Asn (aac) > Ser (agc) predicted Predicted missense mutation PAX6_00192 50 TTGTCA A G CGGGCG Substitution PD SSCP - - Patient has 2 other PAX6 variants, c.85A>G and c.141+14_+25dup12 Patient 1 Foveal Hypoplasia, Aniridia, Cataract, Nystagmus [9856761], United Kingdom (Great Britain):Edinburgh DNA SSCP Patient has 3 changes c.50A>G, c.85A>G and c.141+14_+25dup12 on the same allele. Unknown if any of these has occurred de novo. Substitution of I29 has previously been noted (p.Ile29Ser) so c.85A>G may be the pathological mutation 1 - Female - Sporadic Unknown Yes Yes Nystagmus, cataract, foveal hypoplasia. -
+?/+? 05 Exon c.412A>G c.50A>G - p.(Asn17Ser) Asn (aac) > Ser (agc) predicted Predicted missense mutation PAX6_00849 50 TTGTCA A G CGGGCG Substitution PD Direct Sequencing - - - Patient 1 Aniridia [27081561], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - female - Sporadic - - - Total aniridia, bilateral cataract, foveal hypoplasia -
1 - 2

Save Click here to save this list in a tab-delimited text file.

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