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 (#0000355)
Patient ID c.402del2
Disease Aniridia, Diabetes mellitus
Reference/Submitter Nishi M et al 2004 Diabetic Medicine 22 641-644, Japan:Wakayama
Template DNA
Technique Direct Sequencing
Remarks -
# Reported 1
Population -
Gender Female
Sequence Inheritance -
Phenotype Inheritance Sporadic
Second PCR Unknown
CIS Unknown
Conserved residue Unknown
Related Phenotype Aniridia, strabismus. Normal olfaction, normal brain MRI scan
Unrelated  Phenotype Early-onset diabetes mellitus; may be associated with PAX6 mutation since PAX6 is expressed in the endocrine pancreas
Submitter Masahiro Nishi

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 05
Location Exon
Legacy DNA ID c.402del2
DNA change c.40_41delGT   (View in UCSC Genome Browser)
RNA change -
Protein change p.(Val14Leufs*41)
RNA information PTC predicted - NMD likely
Protein information Protein synthesis unlikely
DB-ID PAX6_00355
Base number 40
5' Sequence Context GGTGGT
Original Sequence GT
Variant Sequence -
3' Sequence Context CTTTGT
Type Deletion
Domain PD
Detection Method Direct Sequencing
RE Site -
Frequency -
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.402del2 c.40_41delGT - p.(Val14Leufs*41) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00355 40 GGTGGT GT - CTTTGT Deletion PD Direct Sequencing - - -