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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001042)
Patient ID Pedace et al
Disease SOX2 Anophthalmia Syndrome
Reference/Submitter [19254784], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Proband conceived through intracytoplasmic sperm injection.
# Reported 1
Population -
Gender male
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue -
Related Phenotype R anophthalmia, L severe microphthalmia; micropenis. Mutation absent in unaffected parents and dizygotic female twin.
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.58_59dupGG
RNA change -
Protein change p.(Gly21Argfs*75)
RNA information Predicted frame-shifting duplication of 2 bases
Protein information Truncated protein predicted
DB-ID SOX2_00057
Location ORF exon
Base number 58
5' Sequence Context GGGGGG
Original Sequence -
Variant Sequence GG
3' Sequence Context CGGCGG
Type Duplication
Domain N-terminal domain
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks Replication slippage likely

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.58_59dupGG - p.(Gly21Argfs*75) Predicted frame-shifting duplication of 2 bases Truncated protein predicted SOX2_00057 ORF exon 58 GGGGGG - GG CGGCGG Duplication N-terminal domain Direct Sequencing - - Replication slippage likely