CSC8312 -- Bioinformatics Theory and Applications
ID PAX6_HUMAN Reviewed; 422 AA.
AC P26367; Q6N006; Q99413;
DT 01-AUG-1992, integrated into UniProtKB/Swiss-Prot.
DT 15-JUL-1999, sequence version 2.
DT 23-SEP-2008, entry version 108.
DE RecName: Full=Paired box protein Pax-6;
DE AltName: Full=Oculorhombin;
DE AltName: Full=Aniridia type II protein;
GN Name=PAX6; Synonyms=AN2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX MEDLINE=92103673; PubMed=1684738; DOI=10.1016/0092-8674(91)90284-6;
RA Ton C.C.T., Hirvonen H., Miwa H., Weil M.M., Monaghan P., Jordan T.,
RA van Heyningen V., Hastie N.D., Meijers-Heijboer H., Drechsler M.,
RA Royer-Pokora B., Collins F.S., Swaroop A., Strong L.C., Saunders G.F.;
RT "Positional cloning and characterization of a paired box- and
RT homeobox-containing gene from the aniridia region.";
RL Cell 67:1059-1074(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX MEDLINE=94258210; PubMed=1345175; DOI=10.1038/ng1192-232;
RA Glaser T., Walton D.S., Maas R.L.;
RT "Genomic structure, evolutionary conservation and aniridia mutations
RT in the human PAX6 gene.";
RL Nat. Genet. 2:232-239(1992).
RN [3]
RP NUCLEOTIDE SEQUENCE (ISOFORM PAX6).
RA Liu J., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B.;
RL Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5A).
RC TISSUE=Cerebellum;
RG The German cDNA consortium;
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 5A).
RA Wilkinson J.;
RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP ALTERNATIVE SPLICING, AND DNA-BINDING.
RX MEDLINE=95047352; PubMed=7958875;
RA Epstein J.A., Glaser T., Cai J., Jepeal L., Walton D.S., Maas R.L.;
RT "Two independent and interactive DNA-binding subdomains of the Pax6
RT paired domain are regulated by alternative splicing.";
RL Genes Dev. 8:2022-2034(1994).
RN [8]
RP X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 4-136.
RX PubMed=10346815;
RA Xu H.E., Rould M.A., Xu W., Epstein J.A., Maas R.L., Pabo C.O.;
RT "Crystal structure of the human Pax-6 paired domain-DNA complex
RT reveals specific roles for the linker region and carboxyl-terminal
RT subdomain in DNA binding.";
RL Genes Dev. 13:1263-1275(1999).
RN [9]
RP REVIEW ON VARIANTS.
RX MEDLINE=98141676; PubMed=9482572;
RX DOI=10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.3.CO;2-J;
RA Prosser J., van Heyningen V.;
RT "PAX6 mutations reviewed.";
RL Hum. Mutat. 11:93-108(1998).
RN [10]
RP STRUCTURE BY NMR OF 211-277.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of the homeobox domain of the human paired box
RT protein PAX-6.";
RL Submitted (NOV-2005) to the PDB data bank.
RN [11]
RP VARIANT AN2 TRP-208.
RX MEDLINE=93372853; PubMed=8364574; DOI=10.1093/hmg/2.7.915;
RA Hanson I.M., Seawright A., Hardman K., Hodgson S., Zaletayev D.,
RA Fekete G., van Heyningen V.;
RT "PAX6 mutations in aniridia.";
RL Hum. Mol. Genet. 2:915-920(1993).
RN [12]
RP VARIANT PETERS ANOMALY GLY-26.
RX MEDLINE=94214497; PubMed=8162071; DOI=10.1038/ng0294-168;
RA Hanson I.M., Fletcher J.M., Jordan T., Brown A., Taylor D.,
RA Adams R.J., Punnet H.H., van Heyningen V.;
RT "Mutations at the PAX6 locus are found in heterogeneous anterior
RT segment malformations including Peters' anomaly.";
RL Nat. Genet. 6:168-173(1994).
RN [13]
RP VARIANTS FOVEAL HYPOPLASIA CYS-125 AND CYS-128.
RX MEDLINE=96225435; PubMed=8640214; DOI=10.1038/ng0696-141;
RA Azuma N., Nishina S., Yanagisawa H., Okuyama T., Yamada M.;
RT "PAX6 missense mutation in isolated foveal hypoplasia.";
RL Nat. Genet. 13:141-142(1996).
RN [14]
RP VARIANT AN2 ARG-87, AND VARIANT GLY-26.
RX MEDLINE=97227282; PubMed=9147640; DOI=10.1093/hmg/6.3.381;
RA Tang H.K., Chao L.-Y., Saunders G.F.;
RT "Functional analysis of paired box missense mutations in the PAX6
RT gene.";
RL Hum. Mol. Genet. 6:381-386(1997).
RN [15]
RP VARIANT AN2 22-PRO--ARG-26 DEL.
RX MEDLINE=97428347; PubMed=9281415; DOI=10.1006/mcpr.1997.0117;
RA Axton R., Hanson I.M., Love J., Seawright A., Prosser J.,
RA van Heyningen V.;
RT "Combined SSCP/heteroduplex analysis in the screening for PAX6
RT mutations.";
RL Mol. Cell. Probes 11:287-292(1997).
RN [16]
RP VARIANT AN2 TRP-18.
RX MEDLINE=99006892; PubMed=9792406;
RX DOI=10.1002/(SICI)1098-1004(1998)12:5<304::AID-HUMU3>3.3.CO;2-Y;
RA Wolf M.T.F., Lorenz B., Winterpacht A., Drechsler M., Schumacher V.,
RA Royer-Pokora B., Blankenagel A., Zabel B., Wildhardt G.;
RT "Ten novel mutations found in Aniridia.";
RL Hum. Mutat. 12:304-313(1998).
RN [17]
RP VARIANT EYE MALFORMATIONS ARG-422.
RX MEDLINE=98199717; PubMed=9538891;
RA Azuma N., Yamada M.;
RT "Missense mutation at the C-terminus of the PAX6 gene in ocular
RT anterior segment anomalies.";
RL Invest. Ophthalmol. Vis. Sci. 39:828-830(1998).
RN [18]
RP VARIANTS AN2 SER-17; VAL-29; GLN-44 AND HIS-178.
RX MEDLINE=99072581; PubMed=9856761;
RA Azuma N., Hotta Y., Tanaka H., Yamada M.;
RT "Missense mutations in the PAX6 gene in aniridia.";
RL Invest. Ophthalmol. Vis. Sci. 39:2524-2528(1998).
RN [19]
RP VARIANT EYE MALFORMATIONS ASP-53.
RX MEDLINE=99375017; PubMed=10441571; DOI=10.1086/302529;
RA Azuma N., Yamaguchi Y., Handa H., Hayakawa M., Kanai A., Yamada M.;
RT "Missense mutation in the alternative splice region of the PAX6 gene
RT in eye anomalies.";
RL Am. J. Hum. Genet. 65:656-663(1999).
RN [20]
RP ALTERNATIVE SPLICING, AND VARIANTS AN2 SER-42; LEU-53; PRO-63; GLU-79
RP AND GLN-208.
RX MEDLINE=99250762; PubMed=10234503; DOI=10.1038/sj.ejhg.5200308;
RA Groenskov K., Rosenberg T., Sand A., Broendum-Nielsen K.;
RT "Mutational analysis of PAX6: 16 novel mutations including 5 missense
RT mutations with a mild aniridia phenotype.";
RL Eur. J. Hum. Genet. 7:274-286(1999).
RN [21]
RP VARIANTS AN2 PRO-33 AND PRO-43, VARIANT FOVEAL HYPOPLASIA VAL-64, AND
RP VARIANT ECTOPIA PUPILLAE ASP-126.
RX MEDLINE=99135896; PubMed=9931324; DOI=10.1093/hmg/8.2.165;
RA Hanson I.M., Churchill A., Love J., Axton R., Moore T., Clarke M.,
RA Meire F., van Heyningen V.;
RT "Missense mutations in the most ancient residues of the PAX6 paired
RT domain underlie a spectrum of human congenital eye malformations.";
RL Hum. Mol. Genet. 8:165-172(1999).
RN [22]
RP VARIANTS AN2 SER-29; ARG-119 AND ALA-353.
RA Wildhardt G.;
RL Unpublished observations (APR-1999).
RN [23]
RP VARIANT AN2 37-ALA--PRO-39 DEL.
RA Saunders G.F.;
RL Unpublished observations (AUG-1999).
RN [24]
RP VARIANT NYSTAGMUS ARG-118.
RX MEDLINE=20410622; PubMed=10955655; DOI=10.1007/s004170000124;
RA Sonoda S., Isashiki Y., Tabata Y., Kimura K., Kakiuchi T., Ohba N.;
RT "A novel PAX6 gene mutation (P118R) in a family with congenital
RT nystagmus associated with a variant form of aniridia.";
RL Graefes Arch. Clin. Exp. Ophthalmol. 238:552-558(2000).
RN [25]
RP VARIANTS AN2 GLN-375 AND ARG-422.
RX MEDLINE=21205761; PubMed=11309364; DOI=10.1093/hmg/10.9.911;
RA Singh S., Chao L.-Y., Mishra R., Davies J., Saunders G.F.;
RT "Missense mutation at the C-terminus of PAX6 negatively modulates
RT homeodomain function.";
RL Hum. Mol. Genet. 10:911-918(2001).
RN [26]
RP VARIANT MORNING GLORY DISK ANOMALY SER-68, VARIANT OCULAR COLOBOMA
RP SER-258, VARIANT PETERS ANOMALY PRO-363, AND VARIANTS OPTIC NERVE
RP HYPOPLASIA/APLASIA ILE-292; ARG-378; VAL-381 AND ALA-391.
RX MEDLINE=22633032; PubMed=12721955; DOI=10.1086/375555;
RA Azuma N., Yamaguchi Y., Handa H., Tadokoro K., Asaka A., Kawase E.,
RA Yamada M.;
RT "Mutations of the PAX6 gene detected in patients with a variety of
RT optic-nerve malformations.";
RL Am. J. Hum. Genet. 72:1565-1570(2003).
CC -!- FUNCTION: Transcription factor with important functions in the
CC development of the eye, nose, central nervous system and pancreas.
CC Required for the differentiation of pancreatic islet alpha cells
CC (By similarity). Competes with PAX4 in binding to a common element
CC in the glucagon, insulin and somatostatin promoters. Regulates
CC specification of the ventral neuron subtypes by establishing the
CC correct progenitor domains (By similarity). Isoform 5a appears to
CC function as a molecular switch that specifies target genes.
CC -!- INTERACTION:
CC P63168:Dynll1 (xeno); NbExp=2; IntAct=EBI-747278, EBI-349121;
CC Q9NSC5:HOMER3; NbExp=2; IntAct=EBI-747278, EBI-748420;
CC Q96F44:TRIM11; NbExp=2; IntAct=EBI-747278, EBI-851809;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P26367-1; Sequence=Displayed;
CC Name=5a; Synonyms=Pax6-5a;
CC IsoId=P26367-2; Sequence=VSP_002366;
CC Name=3; Synonyms=Pax6-5A,6*;
CC IsoId=P26367-3; Sequence=Not described;
CC -!- TISSUE SPECIFICITY: Fetal eye, brain, spinal cord and olfactory
CC epithelium. Isoform 5a is less abundant than the PAX6 shorter
CC form.
CC -!- DEVELOPMENTAL STAGE: Expressed in the developing eye and brain.
CC -!- DISEASE: Defects in PAX6 are the cause of aniridia type II (AN2)
CC [MIM:106210]. AN2 is a bilateral panocular disorder characterized
CC by complete or partial absence of the iris, absence of the fovea
CC and malformations of the lens and anterior chamber. Severe age-
CC related corneal degeneration is a frequent complication which
CC contributes to a poor visual prognostis in aniridia. About one
CC third of the cases are sporadic, and two thirds are familial, with
CC autosomal dominant inheritance and high penetrance. Nearly one
CC third of sporadic AN patients develop Wilms tumor in association
CC with genitourinary anomalies and mental retardation (WAGR
CC syndrome) as a consequence of heterozygous (sub)microscopic
CC deletions of chromosome 11p13.
CC -!- DISEASE: Defects in PAX6 are a cause of Peters anomaly
CC [MIM:604229]. Peters anomaly consists of a central corneal
CC leukoma, absence of the posterior corneal stroma and Descemet
CC membrane, and a variable degree of iris and lenticular attachments
CC to the central aspect of the posterior cornea.
CC -!- DISEASE: Defects in PAX6 are a cause of ectopia pupillae
CC [MIM:129750]. It is a congenital eye malformation in which the
CC pupils are displaced from their normal central position.
CC -!- DISEASE: Defects in PAX6 are a cause of foveal hypoplasia
CC [MIM:136520]. Foveal hypoplasia can be isolated or associated with
CC presenile cataract. Inheritance is autosomal dominant.
CC -!- DISEASE: Defects in PAX6 are a cause of autosomal dominant
CC keratitis [MIM:148190]. It is an eye disorder characterized by
CC corneal opacification and vascularization, and by foveal
CC hypoplasia.
CC -!- DISEASE: Defects in PAX6 are a cause of ocular coloboma
CC [MIM:120200]; also known as uveoretinal coloboma or coloboma of
CC iris, choroid and retina. Ocular colobomas are a set of
CC malformations resulting from abnormal morphogenesis of the optic
CC cup and stalk, and the fusion of the fetal fissure (optic
CC fissure). Severe colobomatous malformations may cause as much as
CC 10% of the childhood blindness. The clinical presentation of
CC ocular coloboma is variable. Some individuals may present with
CC minimal defects in the anterior iris leaf without other ocular
CC defects. More complex malformations create a combination of iris,
CC uveoretinal and/or optic nerve defects without or with
CC microphthalmia or even anophthalmia.
CC -!- DISEASE: Defects in PAX6 are a cause of coloboma of optic nerve
CC [MIM:120430].
CC -!- DISEASE: Defects in PAX6 are a cause of bilateral optic nerve
CC hypoplasia [MIM:165550]; also known as bilateral optic nerve
CC aplasia. Inheritance is autosomal dominant.
CC -!- SIMILARITY: Belongs to the paired homeobox family.
CC -!- SIMILARITY: Contains 1 homeobox DNA-binding domain.
CC -!- SIMILARITY: Contains 1 paired domain.
CC -!- WEB RESOURCE: Name=Human PAX6 allelic variant database web site;
CC URL="http://pax6.hgu.mrc.ac.uk/";
CC -!- WEB RESOURCE: Name=GeneReviews;
CC URL="http://www.genetests.org/query?gene=PAX6";
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DR EMBL; M77844; AAA59963.1; -; mRNA.
DR EMBL; M77844; AAA59962.1; -; mRNA.
DR EMBL; M93650; AAA36416.1; -; mRNA.
DR EMBL; AY047583; AAK95849.1; -; mRNA.
DR EMBL; BX640762; CAE45868.1; -; mRNA.
DR EMBL; Z95332; CAG38363.1; -; Genomic_DNA.
DR EMBL; Z83307; CAG38363.1; JOINED; Genomic_DNA.
DR EMBL; Z83307; CAG38087.1; -; Genomic_DNA.
DR EMBL; Z95332; CAG38087.1; JOINED; Genomic_DNA.
DR EMBL; BC011953; AAH11953.1; -; mRNA.
DR PIR; A56674; A56674.
DR RefSeq; NP_000271.1; -.
DR RefSeq; NP_001121084.1; -.
DR RefSeq; NP_001595.2; -.
DR UniGene; Hs.591993; -.
DR PDB; 2CUE; NMR; -; A=211-277.
DR PDB; 6PAX; X-ray; 2.50 A; A=4-136.
DR PDBsum; 2CUE; -.
DR PDBsum; 6PAX; -.
DR IntAct; P26367; -.
DR PhosphoSite; P26367; -.
DR Ensembl; ENSG00000007372; Homo sapiens.
DR GeneID; 5080; -.
DR KEGG; hsa:5080; -.
DR H-InvDB; HIX0009529; -.
DR HGNC; HGNC:8620; PAX6.
DR MIM; 106210; phenotype.
DR MIM; 120200; phenotype.
DR MIM; 120430; phenotype.
DR MIM; 129750; phenotype.
DR MIM; 136520; phenotype.
DR MIM; 148190; phenotype.
DR MIM; 165550; phenotype.
DR MIM; 604229; phenotype.
DR MIM; 607108; gene.
DR Orphanet; 77; Aniridia.
DR Orphanet; 194; Coloboma, ocular.
DR Orphanet; 2253; Foveal hypoplasia presenile cataract.
DR Orphanet; 2334; Keratitis, hereditary.
DR Orphanet; 708; Peters anomaly.
DR PharmGKB; PA32960; -.
DR HOVERGEN; P26367; -.
DR ArrayExpress; P26367; -.
DR CleanEx; HS_PAX6; -.
DR GermOnline; ENSG00000007372; Homo sapiens.
DR GO; GO:0005515; F:protein binding; IPI:IntAct.
DR GO; GO:0003700; F:transcription factor activity; TAS:ProtInc.
DR GO; GO:0007417; P:central nervous system development; TAS:ProtInc.
DR GO; GO:0001654; P:eye development; TAS:ProtInc.
DR GO; GO:0009887; P:organ morphogenesis; TAS:ProtInc.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR InterPro; IPR001356; Homeobox.
DR InterPro; IPR012287; Homeodomain-rel.
DR InterPro; IPR001523; Paired_box_N.
DR InterPro; IPR011991; Wing_hlx_DNA_bd.
DR Gene3D; G3DSA:1.10.10.60; Homeodomain-rel; 1.
DR Gene3D; G3DSA:1.10.10.10; Wing_hlx_DNA_bd; 2.
DR Pfam; PF00046; Homeobox; 1.
DR Pfam; PF00292; PAX; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR PRINTS; PR00027; PAIREDBOX.
DR ProDom; PD000010; Homeobox; 1.
DR SMART; SM00389; HOX; 1.
DR SMART; SM00351; PAX; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS00034; PAIRED_1; 1.
DR PROSITE; PS51057; PAIRED_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Developmental protein;
KW Differentiation; Disease mutation; DNA-binding; Homeobox; Nucleus;
KW Paired box; Repressor; Transcription; Transcription regulation.
FT CHAIN 1 422 Paired box protein Pax-6.
FT /FTId=PRO_0000050185.
FT DOMAIN 4 130 Paired.
FT DNA_BIND 210 269 Homeobox.
FT COMPBIAS 131 209 Gln/Gly-rich.
FT COMPBIAS 279 422 Pro/Ser/Thr-rich.
FT VAR_SEQ 47 47 Q -> QTHADAKVQVLDNQN (in isoform 5a).
FT /FTId=VSP_002366.
FT VARIANT 17 17 N -> S (in AN2).
FT /FTId=VAR_003808.
FT VARIANT 18 18 G -> W (in AN2 and Peters anomaly).
FT /FTId=VAR_003809.
FT VARIANT 22 26 Missing (in AN2; sporadic form).
FT /FTId=VAR_008693.
FT VARIANT 26 26 R -> G (in Peters anomaly).
FT /FTId=VAR_003810.
FT VARIANT 29 29 I -> S (in AN2; sporadic form).
FT /FTId=VAR_008694.
FT VARIANT 29 29 I -> V (in AN2).
FT /FTId=VAR_003811.
FT VARIANT 33 33 A -> P (in AN2; sporadic form).
FT /FTId=VAR_008695.
FT VARIANT 37 39 Missing (in AN2; sporadic form).
FT /FTId=VAR_008696.
FT VARIANT 42 42 I -> S (in AN2; mild).
FT /FTId=VAR_008697.
FT VARIANT 43 43 S -> P (in AN2; sporadic form).
FT /FTId=VAR_008698.
FT VARIANT 44 44 R -> Q (in AN2).
FT /FTId=VAR_003812.
FT VARIANT 53 53 V -> D (in Peters anomaly, congenital
FT cataract and foveal hypoplasia; Japanese
FT pedigrees).
FT /FTId=VAR_008700.
FT VARIANT 53 53 V -> L (in AN2; mild).
FT /FTId=VAR_008699.
FT VARIANT 63 63 T -> P (in AN2; mild).
FT /FTId=VAR_008701.
FT VARIANT 64 64 G -> V (in foveal hypoplasia; associated
FT with presenile cataract syndrome).
FT /FTId=VAR_008702.
FT VARIANT 68 68 P -> S (in morning glory disk anomaly;
FT significant impairment of transcriptional
FT activation ability).
FT /FTId=VAR_017540.
FT VARIANT 79 79 A -> E (in AN2; mild).
FT /FTId=VAR_008703.
FT VARIANT 87 87 I -> R (in AN2; loss of activity).
FT /FTId=VAR_003813.
FT VARIANT 118 118 P -> R (in nystagmus associated with a
FT variant form of aniridia).
FT /FTId=VAR_015065.
FT VARIANT 119 119 S -> R (in AN2; sporadic form).
FT /FTId=VAR_008704.
FT VARIANT 125 125 R -> C (in foveal hypoplasia; isolated).
FT /FTId=VAR_017541.
FT VARIANT 126 126 V -> D (in ectopia pupillae).
FT /FTId=VAR_008705.
FT VARIANT 128 128 R -> C (in foveal hypoplasia; isolated).
FT /FTId=VAR_003814.
FT VARIANT 178 178 Q -> H (in AN2).
FT /FTId=VAR_003815.
FT VARIANT 208 208 R -> Q (in AN2; mild).
FT /FTId=VAR_008706.
FT VARIANT 208 208 R -> W (in AN2).
FT /FTId=VAR_003816.
FT VARIANT 258 258 F -> S (in ocular coloboma; significant
FT impairment of transcriptional activation
FT ability).
FT /FTId=VAR_017542.
FT VARIANT 292 292 S -> I (in bilateral optic nerve
FT hypoplasia; significant impairment of
FT transcriptional activation ability).
FT /FTId=VAR_017543.
FT VARIANT 353 353 S -> A (in AN2; familial form).
FT /FTId=VAR_008707.
FT VARIANT 363 363 S -> P (in Peters anomaly).
FT /FTId=VAR_017544.
FT VARIANT 375 375 P -> Q (in AN2; reduced DNA binding
FT ability).
FT /FTId=VAR_015066.
FT VARIANT 378 378 Q -> R (in optic nerve aplasia).
FT /FTId=VAR_017545.
FT VARIANT 381 381 M -> V (in bilateral optic nerve
FT hypoplasia).
FT /FTId=VAR_017546.
FT VARIANT 391 391 T -> A (in bilateral optic nerve
FT aplasia).
FT /FTId=VAR_017547.
FT VARIANT 422 422 Q -> R (in AN2 and ocular anterior
FT segment anomalies; loss of DNA binding
FT ability).
FT /FTId=VAR_008708.
FT CONFLICT 317 317 R -> L (in Ref. 1; AAA59963/AAA59962).
FT CONFLICT 369 369 Y -> C (in Ref. 4; CAE45868).
FT STRAND 6 8
FT STRAND 14 16
FT HELIX 23 34
FT HELIX 39 46
FT HELIX 50 63
FT STRAND 77 79
FT HELIX 81 93
FT HELIX 99 108
FT TURN 114 116
FT HELIX 120 133
FT HELIX 219 229
FT HELIX 237 246
FT HELIX 251 275
SQ SEQUENCE 422 AA; 46683 MW; C33CDD2C1B13C397 CRC64;
MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN GCVSKILGRY
YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW EIRDRLLSEG VCTNDNIPSV
SSINRVLRNL ASEKQQMGAD GMYDKLRMLN GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ
EGGGENTNSI SSNGEDSDEA QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR
ERLAAKIDLP EARIQVWFSN RRAKWRREEK LRNQRRQASN TPSHIPISSS FSTSVYQPIP
QPTTPVSSFT SGSMLGRTDT ALTNTYSALP PMPSFTMANN LPMQPPVPSQ TSSYSCMLPT
SPSVNGRSYD TYTPPHMQTH MNSQPMGTSG TTSTGLISPG VSVPVQVPGS EPDMSQYWPR
LQ
//