This database has been closed to new submissions.

LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001051)
Patient ID Patient 8
Disease Anophthalmia
Reference/Submitter [19921648], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks It is possible that this is not a pathological mutation. The run of glycines containing the amino acid insertion is highly variable in other species. An affected half-sibling (aborted) did not have the mutation.
# Reported 1
Population Mixed ethnicity; patient is Hispanic
Gender male
Sequence Inheritance Unknown
Phenotype Inheritance -
Second PCR Yes
CIS No
Conserved residue -
Related Phenotype Bilateral anophthalmia. Panhypopituitarism. Facial dysmorphism. Acanthosis nigricans. Excess extra-axial fluid, ectopic neurohypophysis and pituitary hypoplasia by brain MRI. Global developmental delay and autistic features.
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 01
Legacy DNA ID -
DNA change c.67_69dupGGC
RNA change -
Protein change p.(Gly33_Asn34insGly)
RNA information In-frame duplication of 3 bases
Protein information Insertion of Glycine in a run of Glycines
DB-ID SOX2_00065
Location ORF exon
Base number 67
5' Sequence Context GGCGGC
Original Sequence -
Variant Sequence GGC
3' Sequence Context AACTCC
Type Duplication
Domain N-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
+/+? Unknown 01 - c.67_69dupGGC - p.(Gly33_Asn34insGly) In-frame duplication of 3 bases Insertion of Glycine in a run of Glycines SOX2_00065 ORF exon 67 GGCGGC - GGC AACTCC Duplication N-terminal domain Direct Sequencing - - -