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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001722)
Patient ID Suzuki 2014 Case 6
Disease Bilateral microphthalmia
Reference/Submitter [24804704], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Father is mosaic for the mutation
# Reported 1
Population -
Gender female
Sequence Inheritance Familial (mosaic)
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue -
Related Phenotype Developmental delay, retarded postnatal growth. White matter signal anomaly by MRI
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.402delC
RNA change -
Protein change p.(Gly135Alafs*19)
RNA information Frame-shifting deletion predicted
Protein information Truncated protein predicted. Mutant protein has reduced in vitro transactivating activity
DB-ID SOX2_00108
Location ORF exon
Base number 402
5' Sequence Context GGCCCC
Original Sequence C
Variant Sequence -
3' Sequence Context GGCGGC
Type Deletion
Domain CTD
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.402delC - p.(Gly135Alafs*19) Frame-shifting deletion predicted Truncated protein predicted. Mutant protein has reduced in vitro transactivating activity SOX2_00108 ORF exon 402 GGCCCC C - GGCGGC Deletion CTD Direct Sequencing - - -