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LOVD - Variant listings for SOX2

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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DNA change   Descending
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RNA change Hide RNA change column Descending
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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
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
01 - c.453G>A - p.(=) Ala (gcg) > Ala (gca) predicted No change expected SOX2_00045 Exon 453 GGGCGC G A GGCGTG Substitution CTD Direct Sequencing - - Presumed neutral variant
01 - c.561T>C - p.(=) Asn (aau) > Asn (aac) predicted No effect predicted SOX2_00044 Exon 561 CCTCAA T C GCGCAC Substitution CTD Direct Sequencing - - Presumed neutral variant
01 - c.571G>A - p.(Ala191Thr) Missense change predicted: Ala (gca) > Thr (aca) Nuclear localization, DNA binding and transactivation activity unaffected SOX2_00025 Exon 571 CACGGC G A CAGCGC Substitution CTD Direct Sequencing HhaI- 0/100 Variant inherited from unaffected father
01 - c.834C>T - p.(=) Leu (cuc) > Leu (cuu) predicted No change expected SOX2_00046 Exon 834 GTATCT C T CCCGGC Substitution NTD Direct Sequencing - - -
01 - c.*22G>A
  (Reported 2 times)
- - Presumed neutral substitution at base 22 of 3'UTR No effect predicted SOX2_00042 3' UTR 976 CTGGAG G A GGGGAG Substitution - DHPLC - 5/88 3'UTR polymorphism
01 - c.*26dupG - p.(=) Single nucleotide insertion in 3'UTR predicted No effect predicted SOX2_00116 3' UTR - GGGGGG - G AGAAAT Duplication - Direct Sequencing - - -
01 - c.*469C>A
  (Reported 2 times)
- - 3'UTR change - no effect predicted No effect predicted SOX2_00051 3' UTR 1850 AAGCAA C A TTTTGT Substitution 3'UTR Heteroduplex Analysis - - Probable 3'UTR polymorphism
01 - c.*557G>A - - 3'UTR change - no effect predicted based on current evidence No effect predicted SOX2_00050 3' UTR 1938 AGGAGA G A GCTTCT Substitution 3'UTR Heteroduplex Analysis - 0/80 Mutation unlikely to be causative based on current knowledge
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Legend: [ SOX2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: Exon number (always '01' for SOX2) Legacy DNA ID: This column is not used in the SOX2 database DNA change: Variation at DNA level (see full legend for details and examples). RNA change: Variation at RNA level (see Full Legend for examples) Protein change: Variation at protein level (see Full Legend for details and examples) RNA information: Additional information about RNA change Protein information: Additional information about protein change SOX2 DB-ID: Database IDentifier; unique identifier for each sequence variant Location: Variant location within the gene Base number: Position of change within cDNA 5' Sequence Context: Six bases immediately 5' of the change Original Sequence: The original (wild type) sequence Variant Sequence: The new (mutant or variant) sequence 3' Sequence Context: Six bases immediately 3' of the change Type: Type of variant at DNA level Domain: SOX2 protein domain: NTD (N-terminal domain), HMG (HMG box) or CTD (C-terminal domain) Detection Method: Technique used to detect the mutation RE Site: Variant creates (+) or destroys (-) a restriction enzyme recognition site Frequency: Frequency of polymorphism/variant Remarks: Any other comments