Known Myocilin variants

This database contains 191 citations and 277 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>gNeutral polymorphism
PromoterN/A-700_-699insNeutral polymorphism
PromoterN/A-467gt>caNeutral polymorphism
PromoterN/A-387c>tNeutral polymorphism
PromoterN/A-339gt11-19Neutral polymorphism
PromoterN/A-320c>tNeutral polymorphism
PromoterN/A-315g>aNeutral polymorphism
PromoterN/A-306g>tNeutral polymorphism
PromoterN/A-306g>aNeutral polymorphism
PromoterN/A-255t>cNeutral polymorphism
PromoterN/A-241g>aNeutral polymorphism
PromoterN/A-224t>cNeutral polymorphism
PromoterN/A-190g>tNeutral polymorphism
PromoterN/A-159t>cNeutral polymorphism
PromoterN/A-153t>cNeutral polymorphism
PromoterN/A-127t>cNeutral polymorphism
PromoterN/A-126t>gNeutral polymorphism
PromoterN/A-126t>cNeutral polymorphism
PromoterN/A-92_-91del_ctNeutral 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 1Cys8Ter24C>AGlaucoma causing mutation
Exon 1Cys9Ser26G>CNeutral polymorphism
Exon 1Gly12Arg34G>CNeutral polymorphism
Exon 1Pro13Leu38C>TNeutral polymorphism
Exon 1Pro13Pro39T>GNeutral polymorphism
Exon 1Pro16Leu47C>TNeutral polymorphism
Exon 1Ala17Ser49G>TNeutral polymorphism
Exon 1Val18Phe52G>TNeutral polymorphism
Exon 1Cys25SerfsTer6556_72dupGlaucoma causing mutation
Exon 1Gln19His57G>TNeutral polymorphism
Exon 1Cys25Arg73T>CGlaucoma causing mutation
Exon 1Arg33Lys98G>ANeutral polymorphism
Exon 1Lys39Arg116A>GNeutral polymorphism
Exon 1Arg46Ter136C>TNeutral polymorphism
Exon 1Gln48His144G>TUncertain pathogenicity
Exon 1Val53Ala158T>CGlaucoma causing mutation
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 1Arg91Ter271C>TGlaucoma causing mutation
Exon 1Leu95Pro284T>CNeutral polymorphism
Exon 1Glu96Glu288G>ANeutral polymorphism
Exon 1Gln101Gln303A>GNeutral polymorphism
Exon 1Thr103Thr309C>TNeutral polymorphism
Exon 1Ala108Gly323C>GNeutral polymorphism
Exon 1Gln118Leu353A>TNeutral polymorphism
Exon 1Gly122Gly366C>TNeutral polymorphism
Exon 1Gly122Gly366C>ANeutral polymorphism
Exon 1Thr123Thr369C>TNeutral polymorphism
Exon 1Leu124Leu372G>CNeutral polymorphism
Exon 1Arg125SerfsTer35375delGGlaucoma causing mutation
Exon 1Arg126Trp376C>TGlaucoma causing mutation
Exon 1Arg126Gln377G>ANeutral polymorphism
Exon 1Arg128Trp382C>TNeutral polymorphism
Exon 1Arg128Arg384G>CNeutral polymorphism
Exon 1Gln134Gln402A>GNeutral polymorphism
Exon 1Thr135Ile404C>TNeutral polymorphism
Exon 1Thr140Ser419C>GUncertain pathogenicity
Exon 1Ala141Ala425C>TNeutral polymorphism
Exon 1Arg158Gln473G>AUncertain pathogenicity
Exon 1Leu159Leu477A>GNeutral polymorphism
Exon 1Gln161Arg482A>GNeutral polymorphism
Exon 1Glu162dup484_486dupGlaucoma causing mutation
Exon 1Leu166Leu498G>CNeutral polymorphism
Exon 1Arg168Arg504G>ANeutral polymorphism
Exon 1Leu180LeuNot SpecifiedNeutral polymorphism
Exon 1Gly183Ser547G>ANeutral polymorphism
Exon 1Arg189Gln566G>ANeutral polymorphism
Intron 1N/A604+13a>cNeutral polymorphism
Intron 1N/A604+14g>aNeutral polymorphism
Intron 1N/A604+16g>tNeutral polymorphism
Intron 1N/A604+19g>cNeutral polymorphism
Intron 1N/A604+50g>aNeutral polymorphism
Intron 1N/A604+228a>tNeutral polymorphism
Exon 2Ser203Phe608C>TNeutral polymorphism
Exon 2Thr204Met611C>TNeutral polymorphism
Exon 2Thr204Thr612G>TNeutral polymorphism
Exon 2Asp208Glu624C>GNeutral polymorphism
Exon 2Thr209Asn626C>AUncertain pathogenicity
Exon 2Leu215Gln644T>AGlaucoma causing mutation
Exon 2Leu215Pro644T>CNeutral polymorphism
Exon 2Lys216Lys648G>ANeutral polymorphism
Exon 2Glu218Lys652G>AUncertain pathogenicity
Exon 2Glu218Glu654G>ANeutral polymorphism
Exon 2Arg226Gln677G>ANeutral polymorphism
Exon 2Leu228Ser683T>CUncertain pathogenicity
Exon 2Glu230Lys688G>AUncertain pathogenicity
Exon 2Glu240Gly719A>GUncertain pathogenicity
Exon 2Thr243ThrNot SpecifiedNeutral polymorphism
Intron 2N/A730+3a>gNeutral polymorphism
Intron 2N/A730+35g>aNeutral polymorphism
Intron 2N/A730+172c>aNeutral polymorphism
Intron 2N/A731-73c>tNeutral polymorphism
Intron 2N/A731-23g>aNeutral polymorphism
Exon 3Gly244Ser730G>ANeutral polymorphism
Exon 3Gly244Val731G>TNeutral polymorphism
Exon 3Cys245Tyr734G>AGlaucoma causing mutation
Exon 3Gly246Arg736G>AGlaucoma causing mutation
Exon 3Asp247Ter739G>TUncertain pathogenicity
Exon 3Val251Ala752T>CGlaucoma causing mutation
Exon 3Gly252Arg754G>AGlaucoma causing mutation
Exon 3Pro254Arg761C>GGlaucoma causing mutation
Exon 3Pro254Leu761C>TGlaucoma causing mutation
Exon 3Leu255Pro764T>CGlaucoma 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 3Arg272Ter814C>TUncertain pathogenicity
Exon 3Arg272Arg816A>TNeutral polymorphism
Exon 3Pro274Arg821C>GGlaucoma causing mutation
Exon 3Lys275SerfsTer71822delCGlaucoma causing mutation
Exon 3Thr285Met854C>TGlaucoma causing mutation
Exon 3Thr285Thr855G>TNeutral polymorphism
Exon 3Trp286Arg856T>CGlaucoma causing mutation
Exon 3Ile288Met864C>GNeutral polymorphism
Exon 3Ile288Ile864C>TNeutral polymorphism
Exon 3Thr290Ala868A>GNeutral polymorphism
Exon 3Thr293Lys878C>ANeutral polymorphism
Exon 3Thr293Thr879G>ANeutral polymorphism
Exon 3Arg296Cys886C>TGlaucoma causing mutation
Exon 3Arg296His887G>AUncertain pathogenicity
Exon 3Gln297His893G>CGlaucoma causing mutation
Exon 3Glu300Lys898G>AGlaucoma causing mutation
Exon 3Asp302Asp906C>TNeutral polymorphism
Exon 3Leu303Ile907C>ANeutral polymorphism
Exon 3Ile304IleNot SpecifiedNeutral polymorphism
Exon 3Gln309Gln927G>ANeutral polymorphism
Exon 3Ser313Phe938C>TGlaucoma causing mutation
Exon 3Leu318Leu952C>TNeutral polymorphism
Exon 3Glu323Lys967G>AGlaucoma causing mutation
Exon 3Thr325Met974C>TNeutral polymorphism
Exon 3Thr325Thr975G>ANeutral polymorphism
Exon 3Gly326Ser976G>AGlaucoma causing mutation
Exon 3Val329Met985G>AGlaucoma causing mutation
Exon 3Val329ValNot SpecifiedNeutral polymorphism
Exon 3Ser331Thr991T>AUncertain pathogenicity
Exon 3Ser331SerNot SpecifiedNeutral polymorphism
Exon 3Ser331Leu992C>TUncertain pathogenicity
Exon 3Ser333Cys997A>TNeutral polymorphism
Exon 3Leu334Pro1001T>CGlaucoma causing mutation
Exon 3Phe336Phe1008C>TNeutral polymorphism
Exon 3Gln337Glu1009C>GGlaucoma causing mutation
Exon 3Gln337ArgfsTer131009delCGlaucoma causing mutation
Exon 3Gln337Arg1010A>GGlaucoma causing mutation
Exon 3Asp338Asn1014G>AGlaucoma causing mutation
Exon 3Ser341Pro1021T>CGlaucoma causing mutation
Exon 3Arg342Gly1024A>GNeutral polymorphism
Exon 3Arg342Lys1025G>AGlaucoma causing mutation
Exon 3Ile345Met1035A>GGlaucoma causing mutation
Exon 3Arg346Thr1037G>CGlaucoma causing mutation
Exon 3Tyr347Ter1041T>GGlaucoma causing mutation
Exon 3Tyr347Tyr1041T>CNeutral polymorphism
Exon 3Thr351Thr1053C>TNeutral polymorphism
Exon 3Glu352Lys1054G>ANeutral polymorphism
Exon 3Thr353Ile1058C>TNeutral polymorphism
Exon 3Ille360Asn1079T>AGlaucoma causing mutation
Exon 3Pro361Ser1081C>TGlaucoma causing mutation
Exon 3Gly362GlufsTer451085delGGlaucoma causing mutation
Exon 3Ala363Thr1087G>AGlaucoma causing mutation
Exon 3Gly364Val1091G>TGlaucoma causing mutation
Exon 3Gly367Arg1099G>AGlaucoma causing mutation
Exon 3Gln368SerfsTer381100_1103delGACAinsTGlaucoma causing mutation
Exon 3Gln368Ter1102C>TGlaucoma causing mutation
Exon 3Phe369Leu1105T>CGlaucoma causing mutation
Exon 3Pro370Leu1109C>TGlaucoma causing mutation
Exon 3Pro370Pro1110G>ANeutral polymorphism
Exon 3Tyr371Asp1111T>GGlaucoma causing mutation
Exon 3Trp373Ter1119G>AGlaucoma causing mutation
Exon 3Gly374Val1121G>TGlaucoma causing mutation
Exon 3Thr377Met1130C>TGlaucoma causing mutation
Exon 3Thr377Arg1130C>GGlaucoma causing mutation
Exon 3Thr377Lys1130C>AGlaucoma causing mutation
Exon 3Thr377ThrNot SpecifiedNeutral polymorphism
Exon 3Asp378Gly1133A>GGlaucoma causing mutation
Exon 3Asp380His1138G>CGlaucoma causing mutation
Exon 3Asp380Asn1138G>AGlaucoma causing mutation
Exon 3Asp380Gly1139A>GGlaucoma causing mutation
Exon 3Asp380Ala1139A>CGlaucoma causing mutation
Exon 3Asp384Asn1150G>AGlaucoma causing mutation
Exon 3Asp384Gly1151A>GGlaucoma causing mutation
Exon 3Gly387Asp1160G>AGlaucoma causing mutation
Exon 3Ser393Asn1178G>AGlaucoma causing mutation
Exon 3Ser393Arg1179C>GGlaucoma causing mutation
Exon 3Thr394Thr1182C>TNeutral polymorphism
Exon 3Asp395Asn1183G>ANeutral polymorphism
Exon 3Asp395Glu1185T>GNeutral polymorphism
Exon 3Glu396dup1186_1188dupGlaucoma causing mutation
Exon 3Asp395_Glu396insAspPro1187_1188insCCCAGAGlaucoma causing mutation
Exon 3Glu396Glu1188G>ANeutral polymorphism
Exon 3Lys398Arg1193A>GNeutral polymorphism
Exon 3Gly399Val1196G>TGlaucoma causing mutation
Exon 3Gly399Asp1196G>AGlaucoma causing mutation
Exon 3Val402Ile1204G>ANeutral polymorphism
Exon 3Leu403Leu1209C>TNeutral polymorphism
Exon 3Leu413Leu1239C>TNeutral polymorphism
Exon 3Glu414Lys1240G>ANeutral polymorphism
Exon 3Arg422Cys1264C>TNeutral polymorphism
Exon 3Arg422His1265G>AGlaucoma causing mutation
Exon 3Lys423Glu1267A>GGlaucoma causing mutation
Exon 3Ser425Ter1274C>GUncertain pathogenicity
Exon 3Ser425Pro1273T>CGlaucoma causing mutation
Exon 3Val426Phe1276G>TGlaucoma causing mutation
Exon 3Val426Val1278C>TNeutral polymorphism
Exon 3Ala427Thr1279G>AGlaucoma causing mutation
Exon 3Asn428Ser1283A>GNeutral polymorphism
Exon 3Phe430Leu1288T>CGlaucoma causing mutation
Exon 3Cys433Arg1297T>CGlaucoma causing mutation
Exon 3Gly434Ser1300G>AGlaucoma causing mutation
Exon 3Gly434Gly1303C>TNeutral polymorphism
Exon 3Tyr437His1309T>CGlaucoma causing mutation
Exon 3Thr438Ile1313C>TGlaucoma causing mutation
Exon 3Thr438ThrNot SpecifiedNeutral polymorphism
Exon 3Val439Val1317C>GNeutral polymorphism
Exon 3Val439Val1317C>TNeutral polymorphism
Exon 3Ala445Val1334C>TNeutral polymorphism
Exon 3Asp446Tyr1336G>TNeutral polymorphism
Exon 3Ala447Thr1339G>AUncertain pathogenicity
Exon 3Ala447Val1340C>TUncertain pathogenicity
Exon 3Thr448Pro1342A>CGlaucoma causing mutation
Exon 3Arg450Tyr1348A>TGlaucoma causing mutation
Exon 3Asn450Asp1348A>GGlaucoma causing mutation
Exon 3Tyr453MetfsTer111357delTGlaucoma causing mutation
Exon 3Thr455Lys1364C>AGlaucoma 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 3Met476Arg1427T>GNeutral polymorphism
Exon 3Ile477Ser1430T>GGlaucoma causing mutation
Exon 3Ile477Asn1430T>AGlaucoma causing mutation
Exon 3Tyr479His1435T>CGlaucoma causing mutation
Exon 3Asn480Lys1440C>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 3Glu483Ter1447G>TGlaucoma causing mutation
Exon 3Leu486Phe1456C>TGlaucoma causing mutation
Exon 3Ala488Ala1464C>TNeutral polymorphism
Exon 3Trp489fs1467insCGlaucoma causing mutation
Exon 3Val495Ile1483G>ANeutral polymorphism
Exon 3Ile499Phe1495A>TGlaucoma causing mutation
Exon 3Ile499Ser1496T>GGlaucoma causing mutation
Exon 3Lys500Arg1499A>GUncertain pathogenicity
Exon 3Ser502Pro1504T>CGlaucoma causing mutation
N/A*4g>cNeutral polymorphism
N/A*20a>gNeutral polymorphism
N/A*52g>tNeutral polymorphism
N/A*73g>cNeutral polymorphism
N/A*291a>gNeutral polymorphism
1q24.3_1q31.2del N/AUncertain pathogenicity
1q23_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).