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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0000858)
Patient ID Patient 2 (II:6)
Disease Anophthalmia Syndrome
Reference/Submitter [16470798], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique DHPLC
Remarks An earlier pregnancy was terminated owing to severe hydrocephaly. Brain and eye defects were confirmed at autopsy. Mutation status unknown
# Reported 1
Population -
Gender female
Sequence Inheritance Familial (mosaic)
Phenotype Inheritance Sporadic
Second PCR Y
CIS -
Conserved residue Y
Related Phenotype Bilateral anophthalmia with related facial dysmorphism, hypotonia. MRI: absent optic nerves and chiasm, otherwise normal. Normal mother has reduced levels of the mutation in blood and mouthwash DNA
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.138T>G
RNA change -
Protein change p.(Asn46Lys)
RNA information Asn (aau) > Lys (aag) predicted
Protein information Predicted missense change in HMG box
DB-ID SOX2_00012
Location Exon
Base number 138
5' Sequence Context CATGAA
Original Sequence T
Variant Sequence G
3' Sequence Context GCCTTC
Type Substitution
Domain HMG
Detection Method DHPLC
RE Site StuI+
Frequency -
Remarks Mutation inherited from normal mother (presumed gonosomal mosaic)

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.138T>G - p.(Asn46Lys) Asn (aau) > Lys (aag) predicted Predicted missense change in HMG box SOX2_00012 Exon 138 CATGAA T G GCCTTC Substitution HMG DHPLC StuI+ - Mutation inherited from normal mother (presumed gonosomal mosaic)