This database has been closed to new submissions.

LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001726)
Patient ID 28A
Disease Anophthalmia/microphthalmia
Reference/Submitter [25542770], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Mutation absent from normal parents
# Reported 1
Population -
Gender male
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue -
Related Phenotype Right anophthalmia; left microphthalmia and sclerocornea. High forehead, narrow palate, micrognathia, spastic hypertonic ankles, bilateral genu valgum, clinodactyly, low weight and height.
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.277G>T
RNA change -
Protein change p.(Glu93*)
RNA information Glu (gag) > Ter (uag) predicted
Protein information HMG box nonsense mutation - truncated protein predicted
DB-ID SOX2_00112
Location Exon
Base number 272
5' Sequence Context ATCGAC
Original Sequence G
Variant Sequence T
3' Sequence Context AGGCTA
Type Substitution
Domain HMG
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks -

1 entry in SOX2

Path. Allele
Exon 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
Location 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 01 - c.277G>T - p.(Glu93*) Glu (gag) > Ter (uag) predicted HMG box nonsense mutation - truncated protein predicted SOX2_00112 Exon 272 ATCGAC G T AGGCTA Substitution HMG Direct Sequencing - - -