LOVD - Variant listings for PAX6

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+/+ - Whole gene PAX6 deletion chr11:18,536,224-31,923,308 r.0 p.0 All exons missing - no transcription - PAX6_00888 - - - - - Deletion - CGH - - Whole gene deletion (13.9 Mb), also detected by MLPA Blanco-Kelly 2017 Aniridia Blanco-Kelly et al 2017 [28231309], Spain:Madrid DNA CGH Whole gene deletion (13.9 Mb), also detected by MLPA 1 Spanish female de novo Sporadic - - - Syndromic aniridia -
+/+ - Whole gene PAX6 deletion chr11:21,254,000-32,564,000del r.0 p.0 All exons missing - no transcription - PAX6_00869 - - - - - Deletion - CGH - - Whole gene deletion also detected by FISH 1851 Aniridia [27124303], United Kingdom (Great Britain):Edinburgh DNA CGH - 1 - - - - - - - - -
+/+ - Whole gene PAX6 deletion chr11:21,586,131-33,168,232 r.0 p.0 All exons missing - no transcription - PAX6_00890 - - - - - Deletion - CGH - - Whole gene deletion (11.6 Mb), also detected by STR analysis Blanco-Kelly 2017 Aniridia Blanco-Kelly et al 2017 [28231309], Spain:Madrid DNA CGH Whole gene deletion (11.6 Mb), also detected by STR analysis 1 Spanish male de novo Sporadic - - - Aniridia and developmental delay. No Wilms tumour -
+/+ - Whole gene PAX6 deletion chr11:29,750,813-32,752,091 r.0 p.0 All exons missing - no transcription - PAX6_00884 - - - - - Deletion - CGH - - Whole gene deletion (3Mb) also validated by MLPA Blanco-Kelly 2017 Aniridia Blanco-Kelly et al 2017 [28231309], Spain:Madrid DNA CGH Whole gene deletion (3Mb) also detected by MLPA 1 Spanish female de novo Sporadic - - - WAGR syndrome -
+/+ - Whole gene PAX6 deletion chr11:31,199,000-31,849,000del r.0 p.0 All exons missing - no transcription - PAX6_00870 - - - - - Deletion - CGH - - Whole gene deletion (650kb) also detected by FISH 2193 Aniridia [27124303], United Kingdom (Great Britain):Edinburgh DNA CGH - 1 - female - Familial - - - Aniridia -
+/+ - Whole gene PAX6 deletion chr11:31,394,000-31,914,000del r.0 p.0 All exons missing - no transcription - PAX6_00871 - - - - - Deletion - CGH - - Whole gene deletion 520kb 377 Aniridia [27124303], United Kingdom (Great Britain):Edinburgh DNA CGH - 1 - female - - - - - - -
+/+ - Whole gene PAX6 deletion chr11:31,698,271-31,794,414del r.0 p.0 All exons missing - no transcription - PAX6_00873 - - - - - Deletion - CGH - - Whole gene deletion (96kb) 1977 Aniridia [27124303], United Kingdom (Great Britain):Edinburgh DNA CGH - 1 - female - Familial - - - Bilateral aniridia, cataract -
+/+ - Whole gene PAX6 deletion chr11:31,779,000-31,933,000del r.0 p.0 All exons missing - no transcription - PAX6_00872 - - - - - Deletion - CGH - - Whole gene deletion 154kb 1510 Aniridia [27124303], United Kingdom (Great Britain):Edinburgh DNA CGH - 1 - female - - - - - - -
+/+ - Whole gene PAX6 deletion del(11)(p12p14.2) r.0 p.0 All exons missing - no transcription - PAX6_00867 - - - - - Deletion - Other - - Whole gene deletion detected by cytogenetic analysis Patient 25 Aniridia [27081561], United Kingdom (Great Britain):Edinburgh DNA Other Deletion detected by cytogenetic analysis 1 - female - Sporadic - - - Total aniridia, cataract, foveal hypoplasia. No mental retardation. No Wilms’ tumour -
+/+ - Whole gene PAX6 deletion del(11)(p13p14) r.0 p.0 All exons missing - no transcription - PAX6_00868 - - - - - Deletion - Other - - Whole gene deletion detected by cytogenetic analysis Patient 26 Aniridia [27081561], United Kingdom (Great Britain):Edinburgh DNA Other Deletion detected by cytogenetic analysis 1 - male - Sporadic - - - Total aniridia, cataract, foveal hypoplasia. No mental retardation. No Wilms’ tumour -
+/+ - - - Deletion of exons 5 and 6 - - - - PAX6_00842 - - - - - Deletion - CGH - - - 1002 Aniridia [26661695], United Kingdom (Great Britain):Edinburgh DNA CGH - 1 - female - Sporadic - - - - -
+/+ - - - Deletion P1 promoter to exon 4 - - - - PAX6_00841 - - - - - Deletion - CGH - - - 228 Aniridia [26661695], United Kingdom (Great Britain):Edinburgh DNA CGH - 1 - male - Sporadic - - - - -
+/+ 1-5 - - chr11:31,780,904_31,789,463del - - Exons 1-5 missing - PAX6_00708 - - - - - Deletion - MLPA - - 8.5 kb deletion of exons 1-5 - Congenital aniridia Russian Federation:Moscow DNA MLPA - 1 Crimea Tatar female de novo Sporadic - no - OU partial aniridia, microcornea, macular hypoplasia, normal lens -
?/? 02 Exon c.225del13 -138_-129+3del13 r.spl? p.? Exon/intron junction deleted - probable splice error Outcome unknown without RNA analysis PAX6_00502 1 AGGATG CCTCATAAAG/GTG - AGTCCG Deletion - DHPLC - - - 284 Aniridia [18241071], United Kingdom (Great Britain):Edinburgh DNA DHPLC - 1 - - - Sporadic Y - - - -
?/? 02 Intron IVS2+2T>A c.-129+2T>A r.spl? - Predicted abolition of intron 2 splice donor. Outcome unknown Effect on protein unknown PAX6_00400 - TAAAG/G T A GAGTCC - - DHPLC - - - n/a Atypical Gillespie Syndrome [17148041], United Kingdom (Great Britain):Edinburgh DNA DHPLC Gillespie syndrome is characterised by iris hypoplasia ('partial aniridia'), cerebellar ataxia and mental retardation. This patient does not have ataxia and may therefore have a variant PAX6 phenotype. It is unclear if the mild neurological anomalies are associated with the PAX6 mutation or not 1 - Male Sporadic Sporadic - - Yes 'Atypical Gillespie syndrome': ptosis, iris anomalies, foveal hypoplasia, retinal vascular tortuosity -
+/- 02 Intron IVS2+9G>A c.-129+9G>A - - Intronic change does not affect any known splice signals - PAX6_00404 - GAGTCC G A CTTCTT - - Direct Sequencing - - - Case D Microphthalmia, Nystagmus, Cataract [17417613], United Kingdom (Great Britain):Edinburgh DNA Direct Sequencing There is no evidence that this change has a functional effect on RNA processing or that it has arisen de novo in this individual. Therefore it is best considered a polymorphism at present. 1 - - - Sporadic - No No Microcornea, partial sclerocornea + band shaped keratitis in left eye. Normal brain CT scan -
-/- 02 Intron IVS2+9G>A c.-129+9G>A
    + c.357+1G>C
- - Intronic change does not affect any known splice signals - PAX6_00541 - GAGTCC G A CTTCTT - - Direct Sequencing - - Normal father has same variant Case 18 Aniridia [18776953], United Kingdom (Great Britain):Edinburgh DNA SEQ Intron 6 mutation absent from both parents. Intron 2 variant present in normal father. 1 Mexican female Sporadic Sporadic - - - Subtotal aniridia, nystagmus, macular hypoplasia, ectopia lentis, microcornea, optic nerve hypoplasia -
?/? 02 Intron IVS2-2delA c.-128-2delA r.spl? - Probable splice error Effect on translation unknown PAX6_00168 1 TCTT A - G/GGGGA Deletion - Unknown DdeI (-) - - 294-97 Aniridia G Wildhart, unpublished, Germany:Mainz DNA Unknown - 1 - Female - - Unknown Unknown n/a - -
?/? 02 Intron IVS2-2delA c.-128-2delA r.spl? - Splice error predicted Effect on translation unknown PAX6_00077 1 TGTCTT A - G/GGGGA Deletion - Heteroduplex Analysis DdeI (-) - Mutation segregates with phenotype but effect is unknown RIBMAR Aniridia [9281415], United Kingdom (Great Britain):Edinburgh DNA Heteroduplex Analysis Mutation destroys DdeI site 1 - Male Familial Familial Yes Unknown n/a Same mutation in affected sister and niece; absent in normal brother and mother -
?/? 02 Intron IVS2-2delA c.-128-2delA r.spl? p.? Probable splice error Effect on translation unknown PAX6_00499 1 TCTT A - G/GGGGA Deletion - DHPLC DdeI (-) - - 190 Aniridia [18241071], United Kingdom (Great Britain):Edinburgh DNA DHPLC - 1 - - - Sporadic Y - - - -
+?/? 02 Intron IVS2-2delA c.-128-2delA r.spl? - Probable splice error Effect on translation unknown PAX6_00750 - TGTCTT A - G/GGGGA Deletion - Direct Sequencing - - - 26.03 Aniridia [28321846], Russian Federation:Moscow DNA SEQ - 1 - male de novo Sporadic - - - OU: Aniridia complete, nystagmus, clear lens. rnMuscular dystonia. -
+/+ 03 Intron IVS2-1G>T c.-128-1G>T r.spl? p.? Probable splice error Effect unknown PAX6_00680 1 GTCTTA G T /GGGGAA Substitution 5'UTR Direct Sequencing - - - Patient 2 Skeens 2011 Variant Aniridia [21376398] , United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - - - Familial - - - Keratopathy, limbal stem cell deficiency, abnormal corneal epithelium, iris hypoplasia -
?/? 03 Exon c.246del4 c.-116_-112delTAAC - - Effect unknown Effect unknown PAX6_00146 - AGACTT TAAC - TAGGGG Deletion - Dideoxy Fingerprinting - - Deleted sequence was originally submitted as TGAC - presumed to be a typo, since actual sequence at this position is TAAC 31 (29795) Aniridia, Nystagmus [10234503], Denmark:Glostrup DNA Dideoxy Fingerprinting - 1 - Male - - Unknown Unknown n/a Mild nystagmus; lens ectopia -
?/? 03 Intron IVS3+1delG c.-52+1delG r.spl? - Predicted 5'UTR splice error - outcome unknown Outcome unknown PAX6_00006 - TTTCAG/ G - CAAGTT Deletion - SSCP - - - Ch Aniridia [1345175], United Kingdom (Great Britain):Edinburgh DNA SSCP - 1 - Unknown - - Unknown No n/a Familial aniridia -
+/+ 03 Intron IVS3+1G>A c.-52+1G>A r.-128_142-95del p.? Skipping of exons 3, 4, 5 & 5a confirmed by RT-PCR Effect on protein unknown PAX6_00143 1 TTTCAG/ G A CAAGTT Substitution - Dideoxy Fingerprinting, RT-PCR - - - 18 (18999) Aniridia, Cataract, Glaucoma, Nystagmus [10234503], Denmark:Glostrup DNA RT-PCR, Dideoxy Fingerprinting - 1 - Male - - Unknown Unknown n/a Familial case: mild nystagmus, early cataract, mild corneal dystrophy, glaucoma -
+/+ 03 Intron IVS3+1G>A c.-52+1G>A r.spl? p.? Exon skipping likely by analogy with PAX6_00143 Effect on protein unknown PAX6_00503 1 TTTCAG/ G A CAAGTT Substitution - Direct Sequencing - - - Patient 1 Aniridia [18483559], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - - - - - - - Isolated aniridia -
+/+ 03 Intron IVS3+1G>A c.-52+1G>A r.-128_142-95del p.? Exon skipping predicted by analogy with PAX6_00143 Effect on protein unknown PAX6_00504 1 TTTCAG/ G A CAAGTT Substitution - Direct Sequencing - - - Patient 53 Aniridia [18483559], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - - - - - - - Isolated aniridia -
+/+ 03 Intron IVS3+5G>C c.-52+5G>C r.spl? p.? Splice defect predicted Effect on protein unknown PAX6_00505 1 AG/GCAA G C TTCTGT Substitution - Direct Sequencing - - - Patient 21 Aniridia [18483559], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - - - - - - - Isolated aniridia -
+/+ 3-7 Exon - chr11:31,778,912_31,794,631del c.(?_-127)_523+?del - Deletion of exons 3-7. Abnormal splicing predicted. - PAX6_00780 - - - - - Deletion - MLPA - - vassilievat - Congenital aniridia Russian Federation:Moscow DNA MLPA - 1 Karachay male de novo Sporadic - - - OU complete aniridia, congenital cataract, glaucoma, microcornea Chest deformation
+/+ 3- - - 03_13del - - Deletion of exons 3-13 - effect on RNA unknown - PAX6_00837 - - - - - Deletion - MLPA - - - Case 4 BG Aniridia [26849621], United Kingdom (Great Britain):Edinburgh DNA MLPA - 1 - female - - - - - Complete bilateral aniridia, nystagmus, cataracts -
+/+ 04 Exon - c.1A>C - p.(Met1?) Initiation codon abolished: Met (atg) > Leu (ctg) Possible failure of translation or initiation from cryptic start sites PAX6_00776 1 CCAGC A C TGCAG Substitution - Direct Sequencing - - - A-37 Congenital aniridia [28321846], Russian Federation:Moscow DNA SEQ - 1 Russian female de novo Sporadic yes no yes OU: complete aniridia, disc hypoplasia, nystagmus, microcornea Right kidney doubling
+/+ 04 Exon c.363A>G c.1A>G - p.(Met1?) Initiation codon abolished: Met (aug) > Val (gug) Possible failure of translation or initiation from cryptic start sites PAX6_00167 1 GCCAGC A G TGCAGA Substitution - Unknown SphI (-) - - 293-96 Aniridia G Wildhart, unpublished, Germany:Mainz DNA Unknown - 1 - Male - Sporadic Unknown Unknown Yes - -
+/+ 04 Exon c.363A>G c.1A>G - p.(Met1?) Initiation codon abolished: Met (aug) > Val (gug) Possible failure of translation or initiation from cryptic start sites PAX6_00627 1 GCCAGC A G TGCAGA Substitution - Direct Sequencing SphI (-) - - QT522 Aniridia [21850189], United Kingdom (Great Britain):Edinburgh DNA SEQ Mother with same mutation has coloboma-like iris defects 2 Chinese female Familial Familial - - - - Nystagmus, foveal hypoplasia, aniridia, punctate cataract
+/+ 04 Exon c.363A>G c.1A>G - p.(Met1?) Initiation codon abolished: Met (aug) > Val (gug) Possible failure of translation or initiation from cryptic start sites PAX6_00778 1 GCCAGC A G TGCAGA Substitution - Direct Sequencing - - - 51AN Congenital aniridia [28321846], Russian Federation:Moscow DNA SEQ - 1 Bulgarian male - Sporadic - - yes OU: partial aniridia, cataract, nystagmus, macular and optic nerve hypoplasia, keratopathy, corpus callosum hypoplasia asthma, pulmonary artery stenosis, maxillary sinus hypoplasia
+/+ 04 Exon c.363AT>CA c.1_2delATinsCA - p.(Met1?) Initiation codon abolished: Met (aug) > Gln (cag) Possible failure of translation or initiation from cryptic start sites PAX6_00125 1 GCCAGC AT CA GCAGAA Insertion/Deletion - SSCP SphI (-) - - SPAN18 Aniridia, Nystagmus [9727514], United Kingdom (Great Britain):Edinburgh DNA SSCP - 1 - Female - Sporadic Unknown Unknown n/a Nystagmus, keratopathy, glaucoma, macular hypoplasia, abnormal ERG (rod and cone) -
+/+ 04 Exon c.364T>A c.2T>A - p.(Met1?) Initiation codon abolished: Met (aug) > Lys (aag) Possible failure of translation or initiation from cryptic sites PAX6_00148 2 CCAGCA T A GCAGAA Substitution - Dideoxy Fingerprinting SphI (-) - - 16 (19714) Aniridia, Cataract, Glaucoma, Nystagmus [10234503], Denmark:Glostrup DNA Dideoxy Fingerprinting - 1 - Female - Familial Yes Unknown Yes Intermediate nystagmus, lens ectopia, late cataract, mild corneal dystrophy, moderate photophobia, glaucoma -
+/+ 04 Exon c.364T>A c.2T>A - p.(Met1?) Initiation codon abolished: Met (aug) > Lys (aag) Possible failure of translation or initiation from cryptic sites PAX6_00846 2 CCAGCA T A GCAGAA Substitution - Direct Sequencing - - - Proband I:1 Aniridia [26535646], United Kingdom (Great Britain):Edinburgh DNA SEQ Mutation present in 8 affected members but not in 4 unaffected members of a 3-generation family 1 Chinese female Familial - - - - All affected members have aniridia, nystagmus and ptosis -
+/+ 04 Exon c.364T>G c.2T>G - p.(Met1?) Initiation codon abolished: Met (aug) > Arg (agg) Possible failure of translation or initation from cryptic sites PAX6_00407 2 CCAGCA T G GCAGAA Substitution - DHPLC SphI (-) - - PY2K/368 Partial Aniridia [16712695], United Kingdom (Great Britain):Edinburgh DNA DHPLC - 1 - Female - Familial Yes - Yes Bilateral partial aniridia. Father also affected. -
+/+ 04 Exon c.364T>G c.2T>G - p.(Met1?) Initiation codon abolished: Met (aug) > Arg (agg) Possible failure of translation or initation from cryptic sites PAX6_00408 2 CCAGCA T G GCAGAA Substitution - DHPLC SphI (-) - - D2006/65 Aniridia K Williamson & V van Heyningen, unpublished, United Kingdom (Great Britain):Edinburgh DNA DHPLC - 1 - Female - - Yes - Yes - -
+/+ 04 Exon c.365delG c.3delG - p.(Met1?) Start codon destroyed by frame-shifting deletion Possible failure of translation or initation from cryptic sites PAX6_00409 3 CAGCAT G - CAGAAC Deletion - DHPLC SphI (-) - - D2003/85 Aniridia [16712695], United Kingdom (Great Britain):Edinburgh DNA DHPLC - 1 - Female Familial Familial Yes - Yes Same mutation in similarly affected father and son -
+/+ 04 Exon c.366delC c.4delC - p.(Gln2Argfs*7) Frameshift predicted, leading to PTC NMD predicted - protein synthesis unlikely PAX6_00471 4 AGCATG C - AGAACA Substitution - DHPLC - - - 133 Aniridia [18241071], United Kingdom (Great Britain):Edinburgh DNA DHPLC - 1 - - - Familial Y - - - -
+/+ 04 Exon - c.7_10dupAACA - p.(Ser4Lysfs*53) Frame-shifting duplication leading to PTC. NMD likely Protein synthesis unlikely PAX6_00761 7 AGAACA - AACA /GTAAGT Duplication PD Direct Sequencing - - Not found in 150 controls AN-18-1 Aniridia [25678763], United Kingdom (Great Britain):Edinburgh DNA SEQ Father (AN-118-2) with same mutation has partial aniridia, nystagmus, foveal hypoplasia, cataract, glaucoma. Mutation absent from unaffected mother 1 Southern India male Familial Familial - - - Aniridia, nystagmus, foveal hypoplasia, microcornea -
+/+ 04 Intron IVS4+1G>A c.10+1G>A r.spl? - Splice error highly likely - PAX6_00762 10 ACAACA/ G A TAAGTG Substitution PD Direct Sequencing - - Not found in 150 controls AN-99-1 Aniridia [25678763], United Kingdom (Great Britain):Edinburgh DNA SEQ Father (AN-99-2) with same mutation has aniridia, keratopathy, nystagmus, foveal hypoplasia, cataract, glaucoma. Mutation absent from unaffected mother 1 Southern India male Familial Familial - - - Aniridia, nystagmus, foveal hypoplasia -
+/+ 04 Intron IVS4+3AA>GC c.10+3_+4delAAinsGC r.-51_10del p.? Skipping of exon 4 confirmed by RT-PCR Possible failure of translation or initiation from cryptic start sites PAX6_00051 10 AACA/GT AA GC GTG Insertion/Deletion - SSCP, RT-PCR, Chemical Cleavage of Mismatch - - - p236113 Aniridia [9138149], United Kingdom (Great Britain):Edinburgh DNA RT-PCR, SSCP, Chemical Cleavage of Mismatch - 1 - Female - Familial Yes No Splice donor - -
+/+ 04 Intron IVS4+5G>C c.10+5G>C r.-51_10del p.? Skipping of exon 4 confirmed by RT-PCR Possible failure of translation or initiation from cryptic start sites PAX6_00383 10 CA/GTAA G C TGCCTC - PD SSCP, RT-PCR - - - 1 Nystagmus, Iris Hypoplasia, Foveal Hypoplasia [15629294], United Kingdom (Great Britain):Edinburgh DNA RT-PCR, SSCP Authors suggest possible use of alternative initiation codon in exon 3. Erroneously entered in old database as IVS+4G>C 1 - Female Familial Familial - No - Affected mother and two maternal aunts have variable iris defects with foveal hypoplasia and nystagmus -
+/+ 04 Intron IVS4+5G>C c.10+5G>C r.spl? p.? Probable splice error Skipping of exon 4 likely by analogy with PAX6_00383 PAX6_00298 10 CA/GTAA G C TGCCTC - - SSCP, DGGE - - - 00/1087 Iris Hypoplasia, Nystagmus, Foveal Hypoplasia [12634864], United Kingdom (Great Britain):Edinburgh DNA DGGE, SSCP - 1 - Unknown - Familial Unknown No - Atypical coloboma -
-/- 04 Intron IVS4-85T>C c.11-85T>C - p.(=) No effect predicted No effect predicted PAX6_00575 11 TCATCT T C CCTCTT Substitution PD Direct Sequencing - 1/570 - Maekawa et al Autism [19607881], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 285 autistic Japanese subjects - - - - - - - -
-/- 04 Intron IVS4-70_72delTCT c.11-70_72delTCT - p.(=) No effect predicted No effect predicted PAX6_00577 11 CCTTCT TCT - CCCTCT Deletion PD Direct Sequencing - 1/570 - Maekawa et al Autism [19607881], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 285 autistic Japanese subjects - - - - - - - -
-/- 04 Intron IVS4-42C>T c.11-42C>T - p.(=) No effect prediced No effect predicted PAX6_00576 11 TGCTCT C T TTCTCT Substitution PD Direct Sequencing - 1/570 - Maekawa et al Autism [19607881], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 285 autistic Japanese subjects - - - - - - - -
-/- 04 Intron IVS4-41T>C c.11-41T>C - p.(=) Substitution at intronic position -41 predicted; unlikely to affect splicing No change expected PAX6_00410 11 GCTCTC T C TCTCCT - - DHPLC - - - D2001/78 Peters anomaly K Williamson & V van Heyningen, unpublished, United Kingdom (Great Britain):Edinburgh DNA DHPLC Substitution at position -41 of intron 4 is probably a neutral polymorphism 1 - - - - Yes - No Bilateral Peters anomaly Tetralogy of Fallot; Hirschprung Disease
+/+ 04 Intron IVS4-2A>G c.11-2A>G r.spl? p.? Splice error predicted Protein outcome unclear without RNA analysis PAX6_00067 11 TTCCTC A G G/GTCAC Substitution PD SSCP AvaI (+) - - DEDOW Aniridia [10857836], United Kingdom (Great Britain):Edinburgh DNA SSCP - 1 - Male - Familial Yes Unknown n/a - -
+/+ 04 Intron IVS4-2A>G c.11-2A>G r.spl? p.? Splice defect highly likely Effect on protein unknown PAX6_00637 11 TTCCTC A G GGTCAC Substitution PD Direct Sequencing - - - Case 1-2 Aniridia [22393275], United Kingdom (Great Britain):Edinburgh DNA SEQ Mother with same mutation has aniridia, nystagmus, cataract and macular hypoplasia 2 Korean female Familial Familial - - - Aniridia, nystagmus, keratopathy, corneal opacity -
+/+ 04 Intron IVS4-2A>G c.11-2A>G r.spl? p.? Splice error predicted Protein outcome unclear without RNA analysis PAX6_00671 11 TTCCTC A G G/GTCAC Substitution PD Direct Sequencing - - Variant absent from 100 controls P2 Aniridia [21904390], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 Chinese - - Sporadic - - - Bilateral complete aniridia, congenital cataract, nystagmus -
+/+ 05 Exon - chr11:31,760,458-31,823,847 - - Deletion of exons 5a to 13. Effect on RNA unknown - PAX6_00887 - - - - - Deletion - CGH - - Deletion of 63 Kb of exons 5a to 13 of PAX6 and ELP4, also detected by MLPA in the affected mother Blanco-Kelly 2017 Aniridia Blanco-Kelly et al 2017 [28231309], Spain:Madrid DNA CGH Deletion of 63 Kb of exons 5a to 13 of PAX6 and ELP4, also detected by MLPA in the affected mother 1 Spanish male Maternal Familial - - - Isolated aniridia -
+?/? 05 Exon - c.19G>C - p.(Gly7Arg) - - PAX6_00732 19 CACAGC G C GAGTGA Substitution - Direct Sequencing - - vassilievat 11.21 Aniridia [28321846], Russian Federation:Moscow DNA SEQ Mother with same mutation has partial aniridia 1 - female - Familial - - - Aniridia complete, nystagmus, keratopathy grade I, lens subluxation Residual encephalopathy, mild hypotonic syndrome, talipes valgus, right palm chondroma
+/+ 05 Exon c.381G>T c.19G>T - p.(Gly7*) Gly (gga) >Ter (tga) predicted NMD predicted - protein synthesis unlikely PAX6_00472 19 CACAGC G T GAGTGA Substitution PD DHPLC - - - 130 Aniridia [18241071] , United Kingdom (Great Britain):Edinburgh DNA DHPLC - 1 - - - Sporadic Y - - - -
+/+ 05 Exon c.381G>T c.19G>T - p.(Gly7*) Gly (gga) >Ter (tga) predicted NMD predicted - protein synthesis unlikely PAX6_00638 19 CACAGC G T GAGTGA Substitution PD Direct Sequencing - - - Case 2 Aniridia [22393275], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 Korean male - Sporadic - - - Aniridia, nystagmus, keratopathy, cataract -
+/+ 05 Exon c.388A>T c.26A>T - p.(Asn9Ile) Asn (aau) > Ile (auu) predicted Predicted missense mutation. Asn9 is conserved in all paired domains PAX6_00411 26 GAGTGA A T TCAGCT Substitution PD DHPLC - - - D2002/53 Nystagmus, Ectopia Pupillae [16712695], United Kingdom (Great Britain):Edinburgh DNA DHPLC In the genomic sequence trace (from blood DNA) the mutant allele was present at approximately 10%. Therefore this individual may be a somatic mosaic for the mutation 1 - Female - - Yes - Yes Variant aniridia: nystagmus with nasally displaced pupils -
+/+ 05 Exon c.389_393dupTCAGC c.27_31dupTCAGC - p.(Gly12Serfs*21) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00398 27 ATCAGC - TCAGC TCGGTG Duplication PD SSCP - - - ANF8-1 Aniridia, Cataract, Foveal Hypoplasia, Nystagmus [16803629], United Kingdom (Great Britain):Edinburgh DNA SSCP - 1 - Male Familial Familial - - n/a Bilateral keratopathy. Affected relatives have same mutation -
?/? 05 Exon c.390C>T c.28C>T - p.(Gln10*) Early nonsense mutation - NMD of RNA predicted Protein synthesis unlikely - NMD of RNA predicted PAX6_00412 28 GTGAAT C T AGCTCG Substitution PD DHPLC - - - PY2K/356 Aniridia [16712695], United Kingdom (Great Britain):Edinburgh DNA DHPLC - 1 - Female - - Yes - n/a Possible familial mutation - half brother has bilateral iris anomaly and cataracts. Common father is normal - possible gonadal mosaic -
+/+ 05 Exon c.390C>T c.28C>T - p.(Gln10*) Early nonsense mutation - NMD of RNA predicted Protein synthesis unlikely - NMD of RNA predicted PAX6_00781 28 GTGAAT C T AGCTCG Substitution PD Direct Sequencing - - - 157 Anridia [26661695], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - female - Sporadic - - - Classical aniridia -
?/? 05 Exon c.395delC c.33delC - p.(Gly12Valfs*19) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00100 33 TCAGCT C - GGTGGT Deletion PD SSCP - - - 187HD Aniridia [9792406], Germany:Mainz DNA SSCP - 1 - Female - Familial Unknown No n/a - -
+/+ 05 Exon c.396G>C c.34G>C - p.(Gly12Arg) Gly (ggt) > Arg (cgt) predicted Missense change predicted PAX6_00509 34 CAGCTC G C GTGGTG Substitution PD Direct Sequencing - - - Patient 19 Aniridia [18483559], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - - - - - - - Isolated aniridia -
?/? 05 Exon c.402del2 c.40_41delGT - p.(Val14Leufs*41) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00355 40 GGTGGT GT - CTTTGT Deletion PD Direct Sequencing - - - c.402del2 Aniridia, Diabetes mellitus Nishi M et al 2004 Diabetic Medicine 22 641-644, Japan:Wakayama DNA Direct Sequencing - 1 - Female - Sporadic Unknown Unknown Unknown Aniridia, strabismus. Normal olfaction, normal brain MRI scan Early-onset diabetes mellitus; may be associated with PAX6 mutation since PAX6 is expressed in the endocrine pancreas
+/+ 05 Exon c.406_407delTT c.44_45delTT - p.(Phe15Argfs*40) PTC predicted - NMD of RNA likely Protein synthesis unlikely PAX6_00397 44 GTGTCT TT - GTCAAC Deletion PD SSCP - - - ANF9-1 Aniridia, Foveal Hypoplasia, Nystagmus [16803629], United Kingdom (Great Britain):Edinburgh DNA SSCP - 1 - Female - Familial - - n/a Father also affected -
?/? 05 Exon c.412A>G c.50A>G
    + c.85A>G, c.141+14_+25dup12
- p.(Asn17Ser) Asn (aac) > Ser (agc) predicted Predicted missense mutation PAX6_00192 50 TTGTCA A G CGGGCG Substitution PD SSCP - - Patient has 2 other PAX6 variants, c.85A>G and c.141+14_+25dup12 Patient 1 Foveal Hypoplasia, Aniridia, Cataract, Nystagmus [9856761], United Kingdom (Great Britain):Edinburgh DNA SSCP Patient has 3 changes c.50A>G, c.85A>G and c.141+14_+25dup12 on the same allele. Unknown if any of these has occurred de novo. Substitution of I29 has previously been noted (p.Ile29Ser) so c.85A>G may be the pathological mutation 1 - Female - Sporadic Unknown Yes Yes Nystagmus, cataract, foveal hypoplasia. -
+?/+? 05 Exon c.412A>G c.50A>G - p.(Asn17Ser) Asn (aac) > Ser (agc) predicted Predicted missense mutation PAX6_00849 50 TTGTCA A G CGGGCG Substitution PD Direct Sequencing - - - Patient 1 Aniridia [27081561], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - female - Sporadic - - - Total aniridia, bilateral cataract, foveal hypoplasia -
+/+ 05 Exon - c.50dupA - p.(Asn17Lysfs*39) Frame-shifting insertion leading to PTC. NMD predicted. Protein synthesis unlikely PAX6_00920 50 TCTCAA - A CGGGCG Duplication PD Direct Sequencing - - - Family 1 III-2 Aniridia [28157223], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - female - Familial - - - Aniridia, cataract, nystagmus, corneal opacity, microphthalmia -
+/+ 05 Exon c.413C>A c.51C>A - p.(Asn17Lys) Asn (aac) > Lys (aaa) predicted Paired domain missense mutation predicted PAX6_00600 51 TGTCAA C A GGGCGG Substitution PD Direct Sequencing - 0/200 - Jia et al Peters anomaly [20405024], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 Chinese - - - - - Yes Bilateral Peters anomaly, congenital nystagmus, corneal leukoma with anterior synechia, anterior polar cataract, retinal hypoplasia, microphthalmia -
+/+ 05 Exon c.414G>A c.52G>A - p.(Gly18Arg) Gly (ggg) > Arg (agg) predicted Predicted missense mutation PAX6_00308 52 GTCAAC G A GGCGGC Substitution PD DHPLC - - - GRAAL Peters anomaly [12015275], United Kingdom (Great Britain):Edinburgh DNA DHPLC - 1 - Male - Familial Yes No Yes Patient has bilateral Peters anomaly; father has Axenfeld-Rieger anomaly -
+/+ 05 Exon c.414G>T c.52G>T - p.(Gly18Trp) Gly (ggg) > Trp (ugg) predicted Predicted missense mutation PAX6_00117 52 GTCAAC G T GGCGGC Substitution PD SSCP - - - 205HD Congenital cataract [9792406], Germany:Mainz DNA SSCP - 1 - Female Familial Familial Unknown No n/a Secondary glaucoma. Mother with Peters anomaly has same mutation -
+/+ 05 Exon c.418G>C c.56G>C - p.(Arg19Pro) Arg (cgg) > Pro (ccg) predicted Predicted missense mutation PAX6_00289 56 AACGGG G C GCCACT Substitution PD SSCP, DGGE - - - 98/217 Partial Aniridia, Microphthalmia, Cataract [12634864] [24033328], United Kingdom (Great Britain):Edinburgh DNA DGGE, SSCP - 1 - Unknown - Familial Unknown No Yes Sclerocornea -
+/+ 05 Exon - c.57delG - p.(Pro20Hisfs*11) Frame-shifting deletion leading to PTC NMD predicted - protein synthesis unlikely PAX6_00782 57 CGGGCG G - CCACTG Deletion PD Direct Sequencing - - - 118 Aniridia [26661695], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - male - Sporadic - - - Classical aniridia -
+/+ 05 Exon - c.63-70delGCCGGACT - p.Pro22Hisfs*31 Frame-shifting deletion leading to PTC NMD predicted - protein synthesis unlikely PAX6_00783 63 GCCACT GCCGGACT - CCACCC Deletion PD Direct Sequencing - - - 108 Aniridia [26661695], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - male - Familial - - - Classical aniridia -
+/+ 05 Exon c.427insT c.65_66insT - p.(Asp23Glyfs*33) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00171 65 ACTGCC - T GGACTC Insertion PD Unknown - - - 367-97 Aniridia G Wildhart, unpublished, Germany:Mainz DNA Unknown - 1 - Female - Familial Unknown Unknown n/a - -
+/+ 05 Exon c.427del15 c.65_79del15 - p.(21_25del5) Predicted in-frame deletion Predicted deletion of 5 aa (PDSTR) from the first alpha helix of the N-terminal paired subdomain PAX6_00074 65 CACTGC CGGACTCCACCCGGC - AGAAGA Deletion PD SSCP, DGGE - - - E5del15 Aniridia [12634864], United Kingdom (Great Britain):Edinburgh DNA DGGE, SSCP This is patient 95/06 in Eur J Hum Genet 11 163-169. The mutation was confirmed independently - see Mol Cell Probes 11 287-292, patient LASER) 1 - Female - Familial Yes Unknown n/a - -
+/+ 05 Exon c.432delT c.70delT - p.(Ser24Profs*7) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00030 70 CCGGAC T - CCACCC Deletion PD Unknown - - - Bo Aniridia Glaser T et al (1995) Mol Genetics of Ocular Disease pp51-82, United Kingdom (Great Britain):Edinburgh DNA Unknown - 1 - Male - - Unknown Unknown n/a Son has typical aniridia; father has comparatively normal eyes - not diagnosed until age 51 -
+/+ 05 Exon c.434delC c.72delC - p.(Thr25Profs*6) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00414 72 GGATCT C - ACCCGG Deletion PD DHPLC - - - PY2K/372 PARTE Aniridia, Rieger anomaly K Williamson & V van Heyningen, unpublished, United Kingdom (Great Britain):Edinburgh DNA DHPLC - 1 - Female - - - - - Unusual bilateral iris colobomas, aniridia, Rieger anomaly -
+/+ 05 Exon c.434ins11 c.72_73ins11 - p.(Thr25Cysfs*10) Predicted frameshift leading to PTC - NMD likely Protein synthesis unlikely PAX6_00018 72 GACTCC - TGCGGACCTCC ACCCGG Insertion PD SSCP - - Insertion appears to be a duplication with an extra base added VMR1 Aniridia [7909985], United Kingdom (Great Britain):Edinburgh DNA SSCP Passed from females 7x and from males 6x in large pedigree 1 - Female - Familial Unknown Unknown n/a - -
+/+ 05 Exon c.438C>G c.76C>G - p.(Arg26Gly) Arg (cgg) > Gly (ggg) predicted Arg26Gly protein has reduced DNA binding activity (Hum Mol Gen 6, 381, 1997) PAX6_00035 76 TCCACC C G GGCAGA Substitution PD Direct Sequencing - - Substitution of arginine by glycine near N-terminal end of first alpha-helix; important for DNA binding SOBHA (II-3) Peters anomaly [8162071], United Kingdom (Great Britain):Edinburgh DNA Direct Sequencing Patient has Peters anomaly, iris hypoplasia, posterior embryotoxon and glaucoma. Mother (I-2) and sister (II-2) with same mutation have iris hypoplasia and posterior embryotoxon 1 - Male Familial Familial Yes No Yes - -
+/+ 05 Exon c.439G>C c.77G>C - p.(Arg26Pro) Arg (CGG) > Pro (CCG) predicted Missense change predicted PAX6_00510 77 CCACCC G C GCAGAA Substitution PD Direct Sequencing - - - Patient 44 Variant aniridia [18483559], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - - - Familial - - - Daughter has ectopic pupils, iris atrophy, nystagmus and cataract. Mother has nystagmus, microcornea, iris coloboma, stromal atrophy, peripheral choroidal coloboma -
+/? 05 Exon - c.78delG - p.(Gln27Argfs*4) - - PAX6_00727 78 CACCCG G - CAGAAG Deletion - Direct Sequencing - - vassilievat 63AN Congenital aniridia [28321846], Russian Federation:Moscow DNA SEQ - 1 Russian male de novo Sporadic yes no - OU: complete aniridia, nystagmus, compensated glaucoma, cataract, keratopathy -
+/+ 05 Exon - c.79C>T
    + c.357+1G>A
- p.(Gln27*) Gln (cag) > Ter (uag) predicted NMD predicted - protein synthesis unlikely PAX6_00851 79 ACCCGG C T AGAAGA Substitution PD Direct Sequencing - - - Patient 3 - [27081561], United Kingdom (Great Britain):Edinburgh DNA SEQ Patient has two de novo mutations. Based on the phenotype, they are probably on the same allele, but this has not been confirmed. 1 - male - Sporadic - - - Total aniridia, bilateral cataract, foveal hypoplasia -
+/+ 05 Exon c.442delA c.80delA - p.(Gln27Argfs*4) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00227 80 CCCGGC A - GAAGAT Deletion PD SSCP, Heteroduplex Analysis - - - - Aniridia [10737978], United States: DNA SSCP, Heteroduplex Analysis P1 in Hum Mut 15 332-339 1 - - - Familial Yes Unknown Unknown - -
+/+ 05 Exon c.472ins31 c.80_110dup31 - p.(Arg38Glufs*28) Predicted frameshift leading to PTC - NMD likely Protein synthesis unlikely PAX6_00303 80 CGGGGC - +31 CCGGCC Duplication PD SSCP, DGGE - - Mutation is a precise duplication of bases 80-110 (ie an insertion of 31 bases) - Aniridia [12634864], United Kingdom (Great Britain):Edinburgh DNA DGGE, SSCP - 1 - - - - Unknown No n/a - -
+/+ 05 Exon - c.83_85delAGA - p.(Lys28del) In-frame deletion of one codon predicted Deletion of lysine from first helix of PD PAX6_00663 83 GGCAGA AGA - TTGTAG Deletion PD Direct Sequencing - - - 71158 Microcornea Wang 2012 [22893676], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected father not tested 1 35 Chinese microcornea cases female - Familial - - - Bilateral microcornea (8 mm), ptosis, partial iris hypoplasia, mild optic nerve hypoplasia, foveal hypoplasia -
+/+ 05 Exon - c.83_85delAGA - p.(Lys28del) In-frame deletion of one codon predicted Deletion of lysine from first helix of PD PAX6_00664 83 GGCAGA AGA - TTGTAG Deletion PD Direct Sequencing - - - 71987 (III:2) Microcornea Wang 2012 [22893676], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected dizygotic twin III:2 has same mutation. Affected father not tested. 1 35 Chinese microcornea patients male - Familial - - - Bilateral microcornea (9 mm), full iris with mild structural anomaly, foveal hypoplasia -
+/+ 05 Exon c.447A>G c.85A>G
    + c.50A>G, c.141+14_+25dup12
- p.(Ile29Val) Ile (auu) > Val (guu) predicted Missense substitution of invariant isolecuine PAX6_00193 85 CAGAAG A G TTGTAG Substitution PD SSCP - - - Patient 1 Foveal Hypoplasia, Aniridia, Cataract, Nystagmus [9856761], United Kingdom (Great Britain):Edinburgh DNA SSCP Patient has 3 changes c.50A>G, c.85A>G and c.141+14_+25dup12 on the same allele. Unknown if any of these has occurred de novo. Substitution of I29 has previously been noted (p.Ile29Ser) so c.85A>G may be the pathological mutation 1 - Female - Sporadic Unknown Yes Yes Nystagmus, cataract, foveal hypoplasia. -
+/+ 05 Exon c.448T>G c.86T>G - p.(Ile29Ser) Ile (auu) > Ser (agu) predicted Substitution of invariant isoleucine predicted PAX6_00172 86 AGAAGA T G TTGTAG Substitution PD Unknown - - - 372-97 Aniridia G Wildhart, unpublished, Germany:Mainz DNA Unknown Isoleucine is conserved at this position (in the first alpha helix of the N-terminal subdomain) in all paired domains sequenced to date. 1 - Female - Sporadic Unknown Unknown Yes - -
+/+ 05 Exon - c.87_90dupTGTA - p.(Glu31Cysfs*26) Frame-shifting insertion predicted to introduce PTC NMD predicted - protein synthesis unlikely PAX6_00639 87 ATTGTA - TGTA GAGCTA Duplication PD Direct Sequencing - - - Case 3 Aniridia [22393275], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 Korean male - Sporadic - - - Aniridia, nystagmus, cataract -
+/+ 05 Exon c.456C>G c.94C>G r.(spl)? p.(Leu32Val)/p.? Leu (cua) > Val (gua) predicted. Possible creation of splice donor predicted by in silico analysis Predicted missense change or splice mutation (outcome unknown) PAX6_00473 94 GTAGAG C G TAGCTC Substitution PD DHPLC - - - 166 Aniridia [18241071] , United Kingdom (Great Britain):Edinburgh DNA DHPLC - 1 - - - Familial Y - - - -
+/+ 5 Exon c.457_467dupTAGCTCACAGC c.95_105dup11 - p.(Gly36*) Duplication of 11 bases predicted Protein synthesis unlikely PAX6_00668 95 GTAGAGC - - GGGGCCC Duplication PD Direct Sequencing - - de novo mutation II:1 Aniridia [24787241], China:Fuzhou DNA SEQ Same mutation present in the affected son of the proband but not in the proband's unaffected parents. 1 China male - Familial - - - Foveal hypoplasia, nystagmus and presenile cataracts -
+/+ 05 Exon c.459G>C c.97G>C - p.(Ala33Pro) Ala (gcu) > Pro (ccu) predicted Missense mutation predicted PAX6_00159 97 GAGCTA G C CTCACA Substitution PD SSCP - - Introduction of proline predicted to disrupt first alpha-helix of paired domain SACUP Congenital cataract, Partial aniridia [9931324], United Kingdom (Great Britain):Edinburgh DNA SSCP - 1 - Female Familial Familial Yes Unknown Yes Partial aniridia with significant iris remnants; congenital cataracts. Father (BACUP) similarly affected -
+/+ 05 Exon - c.101dupA - p.(His34Glnfs*22) Frame-shifting insertion predicted to create PTC NMD predicted; protein synthesis unlikely PAX6_00623 101 AGCTCA - A CAGCGG Duplication PD Direct Sequencing - - - QT464 Aniridia [21850189], United Kingdom (Great Britain):Edinburgh DNA SEQ Mother and maternal grandfather also affected 1 Chinese male - Familial - - - Nystagmus, foveal hypoplasia, aniridia, punctate cataract -
+/+ 05 Exon c.429_439del11 c.103_113del11 - p.(Asp23Alafs*29) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00413 103 CTGCCG GACTCCACCCG - GCAGAA Deletion PD DHPLC - - - PY2K/515 Aniridia [16712695], United Kingdom (Great Britain):Edinburgh DNA DHPLC - 1 - Male - Sporadic Yes - n/a - -
+/+ 05 Exon c.468G>A c.106G>A - p.(Gly36Arg) Gly (ggg) > Arg (agg) predicted Missense substitution of invariant glycine predicted PAX6_00364 106 CACAGC G A GGGCCC Substitution PD DHPLC - - - PY2K/457 2/1B Cataract, Iris anomaly Hingorani 2009 2/1B [19218613], United Kingdom (Great Britain):Edinburgh DNA DHPLC Patient 2/1B in Hingorani 2009; mother is patient 2/1A 1 - Female Familial Familial Yes No Yes Iris anomaly and early cataracts. Same mutation in similarly affected mother -
+/+ 05 Exon c.468G>T c.106G>T - p.(Gly36Trp) Gly (ggg) > Trp (ugg) predicted Predicted substitution of invariant glycine in paired domain PAX6_00415 106 CACAGC G T GGGCCC Substitution PD DHPLC - - - PY2K/015 AMBRI Aniridia, Glaucoma [16712695], United Kingdom (Great Britain):Edinburgh DNA DHPLC Alternate patient ID is MEP3-10 1 - Female - Familial Yes - Yes Glaucoma secondary to bilateral aniridia. Probable familial case - deceased father had nystagmus and unilateral retinal detachment -
+/+ 05 Exon c.469G>A c.107G>A - p.(Gly36Glu) Gly (ggg) > (Glu (gag) predicted Predicted substitution of invariant glycine PAX6_00470 107 ACAGCG G A GGCCCG Substitution PD Direct Sequencing - - - Family 2 Iris stromal defect [18440259] , United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - - Familial Familial - - - Affected family members have iris stromal defects and various combinations of nuclear sclerosis, corectopia, corneal pannus, optic nerve hypoplasia, nystagmus, and macular hypoplasia. -
+/+ 05 Exon c.469G>A c.107G>C - p.(Gly36Ala) Gly (ggg) > Ala (gcg) predicted Predicted substitution of invariant glycine PAX6_00372 107 ACAGCG G C GGCCCG Substitution PD SSCP - - - ONH4-1 Optic nerve hypoplasia [16604056], United Kingdom (Great Britain):Edinburgh DNA SSCP Patient is described as having De Morsier syndrome (septo-optic dysplasia); however no data on pituitary function are presented 1 - Male - Sporadic - - Yes Pupils poorly reactive to light. Absent septum pellucidum and hypoplasia of corpus callosum by MR -
+/+ 05 Exon c.468delG c.109delG - p.(Ala37Profs*17) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00265 109 AGCGGG G - CCCGGC Deletion PD Dideoxy Fingerprinting - - - Patient 41 Aniridia [11479730], United Kingdom (Great Britain):Edinburgh DNA Dideoxy Fingerprinting - 1 - - - Sporadic Yes No n/a - -
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Legend: [ PAX6 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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. Each number covers the exon and the following intron. Exon 5a is classified as part of exon 05. Location: Location of the genomic change. Legacy DNA ID: Legacy mutation nomenclature using the original PAX6 cDNA numbering. DNA change: Variation at DNA level (see full legend for details and examples). RNA change: Variation at RNA level (see full legend for details and 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. PAX6 DB-ID: DataBase IDentifier; unique identifier for each mutation. Base number: Position of change within cDNA. 5' Sequence Context: Bases immediately 5' of the sequence change. Original Sequence: The original (wild type) sequence. Variant Sequence: The new (mutant or variant) sequence. 3' Sequence Context: Bases immediately 3' of the sequence change. Type: Type of variant at DNA level. Domain: PAX6 protein domain. Detection Method: Technique used to detect the mutation. RE Site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency of polymorphism or variant. Remarks: Other information. Patient ID: Internal patient reference Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference/Submitter: Links to PubMed ID (if available) and Submitter ID Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Population: Patient population Gender: Patient gender Sequence Inheritance: Sequence Inheritance Phenotype Inheritance: Phenotype Inheritance Second PCR: Second PCR CIS: Other Mutation in Cis Conserved residue: Variation affects conserved base or amino acid Related Phenotype: Related Phenotype Unrelated Phenotype: Unrelated Phenotype