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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001708)
Patient ID Tagaki 2014
Disease Hypogonadotropic hypogonadism
Reference/Submitter (24457197), United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Mutation not present in healthy parents
# Reported 1
Population Japanese
Gender male
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue -
Related Phenotype Hypogonadotropic hypogonadism; horizontal nystagmus; retinal detachment; generalised seizures
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.329A>G
RNA change -
Protein change p.(Tyr110Cys)
RNA information Tyr (uac) > Cys (ugc) predicted
Protein information Missense mutation of invariant cysteine predicted. Mutatn protein has reduced DNA binding and transactivation activity
DB-ID SOX2_00102
Location ORF exon
Base number 329
5' Sequence Context ATAAAT
Original Sequence A
Variant Sequence G
3' Sequence Context CCGGCC
Type Substitution
Domain -
Detection Method Direct Sequencing
RE Site -
Frequency 0/150
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.329A>G - p.(Tyr110Cys) Tyr (uac) > Cys (ugc) predicted Missense mutation of invariant cysteine predicted. Mutatn protein has reduced DNA binding and transactivation activity SOX2_00102 ORF exon 329 ATAAAT A G CCGGCC Substitution - Direct Sequencing - 0/150 -