Known Myocilin variants

This database contains 129 citations and 192 variants.

Jump to Exon 1 regionJump to Intron 1 regionJump to Exon 2 regionJump to Intron 2 regionJump to Exon 3 region

Use the ideogram above to navigate to specific exon and intron regions located in the table below.
Click the individual variants to view allele specific information pertaining to the variant.

Location Amino Acid Change Nucleotide Change Glaucoma Causing
PromoterN/A-2084g>tNeutral polymorphism
PromoterN/A-1770g>aNeutral polymorphism
PromoterN/A-1760ins_aNeutral polymorphism
PromoterN/A-1422g>tNeutral polymorphism
PromoterN/A-1378ins_tNeutral polymorphism
PromoterN/A-1340del_aNeutral polymorphism
PromoterN/A-1333g>aNeutral polymorphism
PromoterN/A-1081a>gNeutral polymorphism
PromoterN/A-1000c>gUncertain pathogenicity
PromoterN/A-700_699insNeutral polymorphism
PromoterN/A-467gt>caNeutral polymorphism
PromoterN/A-387c>tNeutral polymorphism
PromoterN/A-339gt11-19Neutral polymorphism
PromoterN/A-315g>aNeutral polymorphism
PromoterN/A-306g>aNeutral polymorphism
PromoterN/A-255t>cNeutral polymorphism
PromoterN/A-224t>cNeutral polymorphism
PromoterN/A-190g>tNeutral polymorphism
PromoterN/A-153t>cNeutral polymorphism
PromoterN/A-127t>cNeutral polymorphism
PromoterN/A-126t>cNeutral polymorphism
PromoterN/A-83g>aNeutral polymorphism
PromoterN/A-78t>gNeutral polymorphism
PromoterN/A-77g>aNeutral polymorphism
PromoterN/A-18c>tNeutral polymorphism
PromoterN/A-8c>tNeutral polymorphism
Exon 1Phe4Ser11T>CNeutral polymorphism
Exon 1Cys9Ser26G>CNeutral polymorphism
Exon 1Gly12Arg34G>CNeutral polymorphism
Exon 1Pro13ProNot SpecifiedNeutral polymorphism
Exon 1Pro16Leu47C>TNeutral polymorphism
Exon 1Ala17Ser49G>TNeutral polymorphism
Exon 1Val18Leu52G>TNeutral polymorphism
Exon 1Cys25Serfs*6556_72dupGlaucoma causing mutation
Exon 1Gln19His57G>TNeutral polymorphism
Exon 1Cys25Arg73T>CGlaucoma causing mutation
Exon 1Arg46X136C>TNeutral polymorphism
Exon 1Gln48His144G>TUncertain pathogenicity
Exon 1Val53Ala158T>CNeutral polymorphism
Exon 1Ser55Thr164G>CNeutral polymorphism
Exon 1Asn57Asp169A>GNeutral polymorphism
Exon 1Ser69SerNot SpecifiedNeutral polymorphism
Exon 1Val70Val210C>TNeutral polymorphism
Exon 1Asn73Ser218A>GNeutral polymorphism
Exon 1Arg76Lys227G>ANeutral polymorphism
Exon 1Asp77GluNot SpecifiedNeutral polymorphism
Exon 1Arg82Cys244C>TGlaucoma causing mutation
Exon 1Arg82His245G>ANeutral polymorphism
Exon 1Thr88ThrNot SpecifiedNeutral polymorphism
Exon 1Arg91X271C>TGlaucoma causing mutation
Exon 1Leu95Pro284T>CNeutral polymorphism
Exon 1Glu96Glu288G>ANeutral polymorphism
Exon 1Gln118Leu353A>TNeutral polymorphism
Exon 1Gly122Gly366C>TNeutral polymorphism
Exon 1Arg126Trp376C>TGlaucoma causing mutation
Exon 1Arg128Arg384G>CNeutral polymorphism
Exon 1Thr123Thr396C>TNeutral polymorphism
Exon 1Gln134Gln402A>GNeutral polymorphism
Exon 1Thr135Ile404C>TNeutral polymorphism
Exon 1Arg158Gln473G>AUncertain pathogenicity
Exon 1Leu159LeuNot SpecifiedNeutral polymorphism
Exon 1Glu162dup484_486dupGlaucoma causing mutation
Exon 1Leu166Leu502G>CNeutral polymorphism
Exon 1Arg168Arg504G>ANeutral polymorphism
Exon 1Leu180LeuNot SpecifiedNeutral polymorphism
Exon 1Arg189Gln566G>ANeutral polymorphism
Intron 1N/A604+14g>aNeutral polymorphism
Intron 1N/A604+16g>tNeutral polymorphism
Intron 1N/A604+19g>cNeutral polymorphism
Exon 2Ser203Phe608C>TNeutral polymorphism
Exon 2Thr204Met611C>TNeutral polymorphism
Exon 2Thr204ThrNot SpecifiedNeutral polymorphism
Exon 2Asp208Glu624C>GNeutral polymorphism
Exon 2Leu215Pro644T>CNeutral polymorphism
Exon 2Lys216Lys648G>ANeutral polymorphism
Exon 2Thr243ThrNot SpecifiedNeutral polymorphism
Intron 2N/A730+35a>gNeutral polymorphism
Intron 2N/A730+73c>tNeutral polymorphism
Intron 2N/A730+172c>aNeutral polymorphism
Intron 2N/A730+3a>gNeutral polymorphism
Exon 3Val251Ala731G>CGlaucoma causing mutation
Exon 3Gly244Val731G>TNeutral polymorphism
Exon 3Cys245Tyr734G>AGlaucoma causing mutation
Exon 3Gly246Arg736G>AGlaucoma causing mutation
Exon 3Asp247X739G>TNeutral polymorphism
Exon 3Gly252Arg754G>AGlaucoma causing mutation
Exon 3Thr256Met767C>TNeutral polymorphism
Exon 3Ala260Ala780A>GNeutral polymorphism
Exon 3Glu261Lys781G>AGlaucoma causing mutation
Exon 3Lys266Lys798G>ANeutral polymorphism
Exon 3Arg272Gly814C>GGlaucoma causing mutation
Exon 3Pro274Arg821C>GGlaucoma causing mutation
Exon 3Thr285Met854C>TGlaucoma causing mutation
Exon 3Thr285Thr855G>TNeutral polymorphism
Exon 3Trp286Arg856T>CGlaucoma causing mutation
Exon 3Ile288Ile864C>TNeutral polymorphism
Exon 3Thr290Ala868A>GNeutral polymorphism
Exon 3Thr293Lys878C>AGlaucoma causing mutation
Exon 3Glu300Lys898G>AGlaucoma causing mutation
Exon 3Asp302Asp906G>TNeutral polymorphism
Exon 3Ile304IleNot SpecifiedNeutral polymorphism
Exon 3Gln309Gln927G>ANeutral polymorphism
Exon 3Ser313Phe938C>TGlaucoma causing mutation
Exon 3Leu318LeuNot SpecifiedNeutral polymorphism
Exon 3Glu323Lys967G>AGlaucoma causing mutation
Exon 3Thr325ThrNot SpecifiedNeutral polymorphism
Exon 3Val329Met985G>ANeutral polymorphism
Exon 3Val329ValNot SpecifiedNeutral polymorphism
Exon 3Ser331Thr991T>AUncertain pathogenicity
Exon 3Ser331SerNot SpecifiedNeutral polymorphism
Exon 3Gln337Glu1009C>GGlaucoma causing mutation
Exon 3Gln337Arg1010A>GGlaucoma causing mutation
Exon 3Arg342Lys1025G>AGlaucoma causing mutation
Exon 3Ile345Met1035A>GGlaucoma causing mutation
Exon 3Tyr347Tyr1041T>CNeutral polymorphism
Exon 3Tyr347X1041T>GGlaucoma causing mutation
Exon 3Thr351ThrNot SpecifiedNeutral polymorphism
Exon 3Glu352Lys1054G>AUncertain pathogenicity
Exon 3Thr353Ile1058C>TUncertain pathogenicity
Exon 3Ille360Asn1079T>AGlaucoma causing mutation
Exon 3Pro361Ser1081C>TGlaucoma causing mutation
Exon 3Ala363Thr1087G>AGlaucoma causing mutation
Exon 3Gly364Val1091G>TGlaucoma causing mutation
Exon 3Gly367Arg1099G>CGlaucoma causing mutation
Exon 3Gly367Arg1099G>AGlaucoma causing mutation
Exon 3Gln368X1102C>TGlaucoma causing mutation
Exon 3Phe369Leu1105T>CGlaucoma causing mutation
Exon 3Pro370Leu1109C>TGlaucoma causing mutation
Exon 3Pro370Pro1110G>ANeutral polymorphism
Exon 3Thr353Lys1118G>AGlaucoma causing mutation
Exon 3Thr377Met1130C>TGlaucoma causing mutation
Exon 3Thr377ThrNot SpecifiedNeutral polymorphism
Exon 3Asp380Gly1138G>CGlaucoma causing mutation
Exon 3Asp380His1138G>CGlaucoma causing mutation
Exon 3Asp380Asn1138G>AGlaucoma causing mutation
Exon 3Asp380Ala1139A>CGlaucoma causing mutation
Exon 3His367_Ser504delins1381100_1103delinsTGlaucoma causing mutation
Exon 3Ser393Asn1178G>AGlaucoma causing mutation
Exon 3Ser393ArgNot SpecifiedGlaucoma causing mutation
Exon 3Thr394Thr1182C>TNeutral polymorphism
Exon 3Glu396dup1186_1188dupGlaucoma causing mutation
Exon 3Glu396Glu1188G>ANeutral polymorphism
Exon 3Lys398Arg1193A>GNeutral polymorphism
Exon 3Gly399Asp1196G>AGlaucoma causing mutation
Exon 3Gly399Val1196G>TGlaucoma causing mutation
Exon 3Val402Ile1204G>ANeutral polymorphism
Exon 3Leu403Leu1209C>TNeutral polymorphism
Exon 3Glu414Lys1240G>ANeutral polymorphism
Exon 3Arg422Cys1264C>TNeutral polymorphism
Exon 3Arg422His1265G>AGlaucoma causing mutation
Exon 3Lys423Glu1267A>GGlaucoma causing mutation
Exon 3Ser425Pro1273T>CNeutral polymorphism
Exon 3Ser425X1274C>GNeutral polymorphism
Exon 3Val426Phe1276G>TGlaucoma causing mutation
Exon 3Ala427Thr1279G>AGlaucoma causing mutation
Exon 3Cys433Arg1297T>CGlaucoma causing mutation
Exon 3Gly434Ser1300G>AGlaucoma causing mutation
Exon 3Gly434Gly1303C>TNeutral polymorphism
Exon 3Tyr437His1309T>CGlaucoma causing mutation
Exon 3Thr438Ile1313C>TNeutral polymorphism
Exon 3Thr438ThrNot SpecifiedNeutral polymorphism
Exon 3Val439ValNot SpecifiedNeutral polymorphism
Exon 3Ala445Val1334C>TGlaucoma causing mutation
Exon 3Thr448Pro1342A>CGlaucoma causing mutation
Exon 3Asn450Asp1348A>GGlaucoma causing mutation
Exon 3Tyr453del1357delTGlaucoma causing mutation
Exon 3Gly458Asp1373G>AGlaucoma causing mutation
Exon 3Ile465Met1395C>GGlaucoma causing mutation
Exon 3Arg470Cys1408C>TGlaucoma causing mutation
Exon 3Arg470His1409G>ANeutral polymorphism
Exon 3Tyr471Cys1412A>GGlaucoma causing mutation
Exon 3Tyr473Cys1418A>GNeutral polymorphism
Exon 3Ile477Asn1430T>AGlaucoma causing mutation
Exon 3Ile477Ser1430T>GGlaucoma causing mutation
Exon 3Asn480Lys1440C>AGlaucoma causing mutation
Exon 3Pro481Ser1441C>TGlaucoma causing mutation
Exon 3Pro481Thr1441C>AGlaucoma causing mutation
Exon 3Pro481Leu1442C>TGlaucoma causing mutation
Exon 3Pro481Arg1442C>GGlaucoma causing mutation
Exon 3Glu483X1447G>TGlaucoma causing mutation
Exon 3Ala488Ala1464C>TNeutral polymorphism
Exon 3Val495Ile1483G>ANeutral polymorphism
Exon 3Ile499Phe1495A>TGlaucoma causing mutation
Exon 3Ile499Ser1496T>GGlaucoma causing mutation
Exon 3Lys500Arg1499A>GNeutral polymorphism
Exon 3Ser502Pro1504T>CGlaucoma causing mutation
Exon 3N/A*20a>gNeutral polymorphism
Exon 3N/A*73g>cNeutral polymorphism
Exon 3N/A*291a>gNeutral polymorphism
Exon 31544ins489X1544insCGlaucoma causing mutation
Exon 31q24.3_1q31.2del N/AUncertain pathogenicity
Exon 31q23_1q25del N/ANeutral polymorphism

Criteria for identification of pathogenic mutations

In assigning pathogenic status to a given variant the following issues were taken into consideration:

  1. Predicted disruption of protein translation (e.g. frame-shift mutations and premature stop codons)
  2. Sequence variant frequency in control (unaffected) populations (those with a frequency > 1% were classified as polymorphisms)
  3. Variant location (i.e. protein homology domain; cross species conservation of coding sequence)
  4. Evidence for partial segregation with the phenotype within a family
  5. Results of solubility studies

Mutation names are set according to the Human Genome Nomenclature Working Group: (Hum Mutat 11:1-3, 1998; Hum Mutat 15:7-12, 2000; Hum Mutat 22:181-182, 2003).