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LOVD - Variant listings for OTX2

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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01 - c.85G>A - p.(Val29Met) Val (gug) > Met (aug) predicted Predicted missense substitution of conserved N-terminal residue OTX2_00022 Exon 85 CCCTCC G A TGGGCT Substitution N-terminal domain Amplicon Melting Analysis - - Same variant in unaffected father
01 c.268+12C>T c.97+12C>T - p.= Probable neutral intronic substitution No effect predicted OTX2_00009 Intron 97 TGAGCC C T TGCTGC Substitution - Direct Sequencing - C=0.981/T=0.019 SNP frequency assessed in 188 control chromosomes
01 c.269-70C>A c.98-70C>A - p.= No effect on transcription expected No change expected OTX2_00010 Intron 98 - C A - Substitution - Direct Sequencing - - -
03 c.568C>A c.397C>A - p.(Pro133Thr) Missense change predicted: Pro (ccc) > Thr (acc) Mutation affects last residue of highly conserved SGQFTP motif. No effect on DNA binding, nuclear localisation or transcriptional activity OTX2_00007 Exon 397 TTCACT C A CCCCCT Substitution SGQFTP motif Direct Sequencing - 0/328 -
03 c.571C>G c.400C>G - p.(Pro134Ala) Pro (ccc) > Ala (gcc) predicted Missense change predicted. No effect on DNA binding, nuclear localisation or transcriptional activity OTX2_00008 Exon 400 ACTCCC C G CCTCTA Substitution C-terminal domain Direct Sequencing - 0/328 Variant absent from affected mother
03 - c.501C>G - p.(=) Ser (tcc) > Ser (tcg) predicted No effect predicted OTX2_00056 Exon 501 CACCTC C G TCTTCC Substitution - Direct Sequencing - - c.525C>G in NM_021728.2
03 - c.532A>T - p.(Thr178Ser) Thr (acc) > Ser (ucc) predicted Missense change in C-terminal domain. No effect on transactivation activity. OTX2_00025 Exon 532 CCCATG A T CCTATA Substitution C-terminal domain Direct Sequencing - 0/100 Patient also has a pathological deletion
03 - c.734C>T - p.(Ala245Val) Ala (gcu) > Val (guu) predicted Apparently neutral change. Mutant protein has normal transactivation activity OTX2_00027 Exon 734 ATGGAG C T TTCAAG Substitution C-terminal domain Direct Sequencing - 0/100 Neutral variant inherited from normal father
03 c.1051G>A c.*10G>A - p.= Substitution of 10th base of 3'UTR - no effect predicted No effect predicted OTX2_00011 3' UTR 880 CCTGTA G A AACCTC Substitution 3'UTR Direct Sequencing - - -
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Legend: [ OTX2 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 numbering. Legacy DNA ID: Legacy DNA ID DNA change: Variation at DNA-level (see Full Legend for examples) RNA change: Variation at RNA-level (see Full Legend for examples) Protein change: Variation at protein level (see Full Legend for examples) RNA information: Additional information about RNA change Protein information: Additional information about protein change OTX2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Location: Variant location at DNA level. Base number: Location of DNA change 5' Sequence Context: 6 bases immediately 5' of the change Original Sequence: Original (normal) sequence Variant Sequence: Variant (new/mutated) sequence 3' Sequence Context: 6 bases immediately 3' of the change Type: Type of variant at DNA level. Domain: NTD, N-terminal domain; HD, homeodomain; CTD, C-terminal domain Detection Method: Mutation detection technique RE Site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency of variant Remarks: Other remarks about the sequence change