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The variants below are all in the PAX6 database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than PAX6, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the PAX6 full legend here.

838 public entries
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Path.

Exon

Location

Legacy DNA ID

DNA change

RNA change

Protein change

RNA information

Protein information

DB-ID

Base number

5' Sequence Context

Original Sequence

Variant Sequence

3' Sequence Context

Type

Domain

Detection Method

RE Site

Frequency

Remarks

Patient ID

Disease

Reference/Submitter

Template

Technique

Remarks

# Reported

Population

Gender

Sequence Inheritance

Phenotype Inheritance

Second PCR

CIS

Conserved residue

Related Phenotype

Unrelated Phenotype


+/+	-	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

MRC Human Genetics Unit LOVD at MRC IGMM

Paired box gene 6 (PAX6)