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
- 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
- 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
- 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
- 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
- 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
- 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)
- 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
- 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
- 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
- - - Deletion of exons 5 and 6 - - - - PAX6_00842 - - - - - Deletion - CGH - - -
- - - Deletion P1 promoter to exon 4 - - - - PAX6_00841 - - - - - Deletion - CGH - - -
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
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 - - -
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 - - -
02 Intron IVS2+9G>A c.-129+9G>A
  (Reported 2 times)
- - Intronic change does not affect any known splice signals - PAX6_00404 - GAGTCC G A CTTCTT - - Direct Sequencing - - -
02 Intron IVS2-2delA c.-128-2delA
  (Reported 4 times)
r.spl? - Probable splice error Effect on translation unknown PAX6_00168 1 TCTT A - G/GGGGA Deletion - Unknown DdeI (-) - -
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 - - -
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
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 - - -
03 Intron IVS3+1G>A c.-52+1G>A
  (Reported 3 times)
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 - - -
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 - - -
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
3- - - 03_13del - - Deletion of exons 3-13 - effect on RNA unknown - PAX6_00837 - - - - - Deletion - MLPA - - -
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 - - -
04 Exon c.363A>G c.1A>G
  (Reported 3 times)
- 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 (-) - -
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 (-) - -
04 Exon c.364T>A c.2T>A
  (Reported 2 times)
- 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 (-) - -
04 Exon c.364T>G c.2T>G
  (Reported 2 times)
- 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 (-) - -
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 (-) - -
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 - - -
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
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
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 - - -
04 Intron IVS4+5G>C c.10+5G>C
  (Reported 2 times)
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 - - -
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 -
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 -
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 -
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 - - -
04 Intron IVS4-2A>G c.11-2A>G
  (Reported 3 times)
r.spl? p.? Splice error predicted Protein outcome unclear without RNA analysis PAX6_00067 11 TTCCTC A G G/GTCAC Substitution PD SSCP AvaI (+) - -
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
05 Exon - c.19G>C - p.(Gly7Arg) - - PAX6_00732 19 CACAGC G C GAGTGA Substitution - Direct Sequencing - - vassilievat
05 Exon c.381G>T c.19G>T
  (Reported 2 times)
- p.(Gly7*) Gly (gga) >Ter (tga) predicted NMD predicted - protein synthesis unlikely PAX6_00472 19 CACAGC G T GAGTGA Substitution PD DHPLC - - -
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 - - -
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 - - -
05 Exon c.390C>T c.28C>T
  (Reported 2 times)
- 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 - - -
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 - - -
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 - - -
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 - - -
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 - - -
05 Exon c.412A>G c.50A>G
  (Reported 2 times)
- 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
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 - - -
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 -
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 - - -
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 - - -
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 - - -
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 - - -
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 - - -
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 - - -
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 - - -
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 - - -
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 - - -
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
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
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 - - -
05 Exon - c.78delG - p.(Gln27Argfs*4) - - PAX6_00727 78 CACCCG G - CAGAAG Deletion - Direct Sequencing - - vassilievat
05 Exon - c.79C>T - p.(Gln27*) Gln (cag) > Ter (uag) predicted NMD predicted - protein synthesis unlikely PAX6_00851 79 ACCCGG C T AGAAGA Substitution PD Direct Sequencing - - -
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 - - -
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)
05 Exon - c.83_85delAGA
  (Reported 2 times)
- 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 - - -
05 Exon c.447A>G c.85A>G - p.(Ile29Val) Ile (auu) > Val (guu) predicted Missense substitution of invariant isolecuine PAX6_00193 85 CAGAAG A G TTGTAG Substitution PD SSCP - - -
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 - - -
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 - - -
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 - - -
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
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
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 - - -
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 - - -
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 - - -
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 - - -
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 - - -
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 - - -
05 Exon c.468delG c.109delG
  (Reported 3 times)
- p.(Ala37Profs*17) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00265 109 AGCGGG G - CCCGGC Deletion PD Dideoxy Fingerprinting - - -
5 Exon - c.109dupG
  (Reported 2 times)
- p.(Alal37Glyfs*19) Frameshift leads to PTC - NMD predicted Protein synthesis unlikely PAX6_00774 109 GCGGGG - G CCCGGC Duplication - Direct Sequencing - - -
05 Exon c.471del9 c.109_117del9 - p.(37_39del) In-frame deletion of 9 bases predicted Predicted deletion of Ala37, Arg38 and Pro39 PAX6_00182 109 AGCGGG GCCCGGCCG - TGCGAC Deletion PD SSCP, Heteroduplex Analysis - - -
05 Exon c.472_479del8 c.110_117del8 - p.(Ala37Valfs*16) Frame-shifting deletion leading to PTC NMD predicted - protein synthesis unlikely PAX6_00834 110 GCGGGG CCCGGCCG - TGCGAC Deletion - Direct Sequencing - - -
05 Exon - c.112-116delCGGCC - p.(Arg38Valfs*16) Frame-shifting deletion leading to PTC NMD predicted - protein synthesis unlikely PAX6_00785 112 GGGGCC CGGCC - GTGCGA Deletion PD Direct Sequencing - - -
05 Exon c.474C>T c.112C>T
  (Reported 2 times)
- p.(Arg38Trp) Arg (cgg) > Trp (ugg) predicted Predicted substitution of invariant arginine PAX6_00393 112 GGGGCC C T GGCCGT Substitution PD DHPLC - - -
05 Exon c.474delC c.112delC
  (Reported 9 times)
- p.(Arg38Glyfs*16) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00041 112 GGGGCC C - GGCCGT Deletion PD SSCP, Heteroduplex Analysis - - -
05 Exon c.474dupC c.112dupC - p.(Arg38Profs*18) Frame-shift predicted, leading to PTC NMD predicted - protein synthesis unlikely PAX6_00636 112 GGGCCC - C GGCCGT Duplication PD Direct Sequencing - - -
05 Exon c.474_485del12insGA c.112_123del12insGA - p.(Arg38Glufs*13) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00386 112 GGGGCC CGGCCGTGCGAC GA ATTTCC Deletion PD SSCP - - -
05 Exon c.475_491del17 c.113_129del17 - p.(Arg38Profs*12) Frame-shifting deletion predicted, creating PTC Protein synthesis unlikely - NMD predicted PAX6_00604 113 GGGCCC GGCCGTGCGACATTTCC - CGAATT Deletion PD SSCP - 0/100 -
05 Exon c.476_483del8 c.114_121del8
  (Reported 2 times)
- p.(Pro39Hisfs*14) Frame-shifting deletion predicted - NMD likely Protein synthesis unlikely PAX6_00512 114 GGCCCG GCCGTGCC - ACATTT Deletion PD Direct Sequencing - - -
05 Exon c.478insCC c.115_116dupCC
  (Reported 2 times)
- p.(Cys40Argfs*15) Frameshift PTC predicted - NMD likely Protein synthesis unlikely PAX6_00011 115 CCGGCC - CC GTGCGA Duplication PD SSCP - - Possible duplicate entry of PAX6_00254
05 Exon c.479G>A c.117G>A - p.(=) Neutral change Pro (ccg) > Pro (cca) predicted Neutral change in codon 39 PAX6_00567 117 CCGGCC G A TGCGAC Substitution PD Direct Sequencing - 1/570 -
05 Exon c.479_480insGGCC c.117_118insGGCC - p.(Cys40Glyfs*17) Frameshifting insertion predicted to create termination codon - NMD likely Protein synthesis unlikely PAX6_00525 117 CGGCCG - GGCC TGCGAC Insertion PD Direct Sequencing - - -
05 Exon c.479_490del12 c.117_128del12 - p.(49_43delCDIS) In-frame deletion of 12 bases Predicted deletion of 4 amino acids from second alpha helix of N-terminal sub-domain PAX6_00588 117 CCGGCC GTGCGACATTTC - CCGAAT Deletion PD Direct Sequencing - - Affected foetus also inherited a maternal PAX6 mutation
05 Exon c.482C>A c.120C>A
  (Reported 8 times)
- p.(Cys40*) Cys (ugc) > Ter (uga) predicted. Nonsense PTC - NMD likely Protein synthesis unlikely PAX6_00097 120 GCCGTG C A GACATT Substitution PD SSCP, DGGE - - -
05 Exon c.483_491del9 c.121_129del9 - p.(41_43delAspIleSer) Inframe deletion predicted Predicted deletion of Asp41, Ile 42 and Ser43 from paired domain PAX6_00468 121 CCGTGC GACATTTCC - CGAATT Deletion PD SSCP - - -
05 Exon c.484A>G c.122A>G - p.(Asp41Gly) Asp (gac) > Gly (ggc) predicted Predicted missense mutation. Asp41 is conserved in all PAX6 paired domains PAX6_00416 122 CGTGCG A G CATTTC Substitution PD DHPLC - - -
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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.
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.