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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001041)
Patient ID IV.2
Disease Anophthalmia
Reference/Submitter [19471311], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Mutation confirmed in 8 affected relatives in 4 generations. Phenotype highly variable and generally much milder than proband (IV.2).
# Reported 8
Population -
Gender male
Sequence Inheritance Familial
Phenotype Inheritance Familial
Second PCR -
CIS -
Conserved residue Yes
Related Phenotype Bilateral anophthalmia; bilateral small optic nerves and chiasm; normal genitalia. Highly variable phenotype in other affected family members (including very mildly affected sib).
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.368A>G
RNA change -
Protein change p.(Asp123Gly)
RNA information Asp (gau) > Gly (ggu) predicted
Protein information Missense substitution of highly conserved aspartate residue predicted
DB-ID SOX2_00056
Location ORF exon
Base number 368
5' Sequence Context AGAAGG
Original Sequence A
Variant Sequence G
3' Sequence Context TAAGTA
Type Substitution
Domain C-terminal domain
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
+/+ Maternal (confirmed) 01 - c.368A>G - p.(Asp123Gly) Asp (gau) > Gly (ggu) predicted Missense substitution of highly conserved aspartate residue predicted SOX2_00056 ORF exon 368 AGAAGG A G TAAGTA Substitution C-terminal domain Direct Sequencing - - -