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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0000869)
Patient ID Patient 7
Disease Optic nerve hypoplasia
Reference/Submitter [16932809], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Patient has inherited two apparently neutral variants from unaffected father
# Reported 1
Population -
Gender female
Sequence Inheritance Familial
Phenotype Inheritance Sporadic
Second PCR -
CIS Y
Conserved residue Y
Related Phenotype Nystagmus, short stature
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Paternal (confirmed)
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 01
Legacy DNA ID -
DNA change c.389G>C
RNA change -
Protein change p.(Gly130Ala)
RNA information Missense change Gly (ggg) > Ala (gcg) predicted
Protein information Nuclear localization, DNA binding and transactivation activity unaffected
DB-ID SOX2_00023
Location Exon
Base number 389
5' Sequence Context CCGGCG
Original Sequence G
Variant Sequence C
3' Sequence Context GCTGCT
Type Substitution
Domain CTD
Detection Method Direct Sequencing
RE Site BssHII+
Frequency 0/100
Remarks Variant inherited from unaffected father

2 entries 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
-/- Paternal (confirmed) 01 - c.387C>G - p.(=) Gly (ggc) > Gly (ggg) predicted No effect predicted SOX2_00024 Exon 387 GCCCGG C G GGGCTG Substitution CTD Direct Sequencing - 0/100 Variant inherited from unaffected father
-/- Paternal (confirmed) 01 - c.389G>C - p.(Gly130Ala) Missense change Gly (ggg) > Ala (gcg) predicted Nuclear localization, DNA binding and transactivation activity unaffected SOX2_00023 Exon 389 CCGGCG G C GCTGCT Substitution CTD Direct Sequencing BssHII+ 0/100 Variant inherited from unaffected father