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Results for the Protein: Q99972
3024209

MYOC_HUMAN RecName: Full=Myocilin; AltName: Full=Trabecular meshwork-induced glucocorticoid response protein; Flags: Precursor

Known Diseases associated with this Protein:
  GLAUCOMA 1, OPEN ANGLE, A
  GLAUCOMA 1, OPEN ANGLE, A (GLC1A)
  GLAUCOMA 1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE
  GLAUCOMA 1, OPEN ANGLE, A, DIGENIC
  GLAUCOMA 3, PRIMARY CONGENITAL, A (GLC3A)
  GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC, INCLUDED
74
33
17
1
89
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OLF - smart00284
OLF - pfam02191


Swiss-Prot Protein: Q99972
Identical to: NP_000252
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
OLFsmart002848.9e-168246503

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054270Polymorphismp.ALA17SERN/A
Swiss-ProtVAR_054294Diseasep.ALA363THRGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054302Diseasep.ALA427THRGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009691Diseasep.ALA445VALGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009687Polymorphismp.ARG422CYSN/A
Swiss-ProtVAR_009693Diseasep.ARG470CYSGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009671Diseasep.ARG82CYSGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054278Diseasep.ARG158GLNGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009673Polymorphismp.ARG189GLNN/A
Swiss-ProtVAR_054285Polymorphismp.ARG272GLYN/A
Swiss-ProtVAR_009688Diseasep.ARG422HISGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054307Polymorphismp.ARG470HISN/A
Swiss-ProtVAR_009672Polymorphismp.ARG82HISN/A
Swiss-ProtVAR_054291Diseasep.ARG342LYSGlaucoma 1, open angle, A (GLC1A)
dbSNPrs2234926 Polymorphismp.ARG76LYSN/A
Swiss-ProtVAR_054277Diseasep.ARG126TRPGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054306Diseasep.ASN450ASPGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054273Polymorphismp.ASN57ASPN/A
Swiss-ProtVAR_005476Diseasep.ASN480LYSGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054274Polymorphismp.ASN57SERN/A
Swiss-ProtVAR_009669Polymorphismp.ASN73SERN/A
Swiss-ProtVAR_009682Diseasep.ASP380ALAGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054298Diseasep.ASP380ASNGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_014943Polymorphismp.ASP208GLUN/A
Swiss-ProtVAR_054275Polymorphismp.ASP77GLUN/A
Swiss-ProtVAR_009683Diseasep.ASP380GLYGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054297Diseasep.ASP380HISGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054271Diseasep.CYS25ARGGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_008970Diseasep.CYS433ARGGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009666Polymorphismp.CYS9SERN/A
Swiss-ProtVAR_054281Diseasep.CYS245TYRGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_005469Diseasep.GLN337ARGGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054289Diseasep.GLN337GLUGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009668Polymorphismp.GLN19HISN/A
Swiss-ProtVAR_054272Diseasep.GLN48HISGlaucoma 3, primary congenital, A (GLC3A)
Swiss-ProtVAR_054284Diseasep.GLU261LYSGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054287Polymorphismp.GLU300LYSN/A
Swiss-ProtVAR_054288Diseasep.GLU323LYSGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009678Polymorphismp.GLU352LYSN/A
Swiss-ProtVAR_054301Polymorphismp.GLU414LYSN/A
Swiss-ProtVAR_009667Polymorphismp.GLY12ARGN/A
Swiss-ProtVAR_005468Diseasep.GLY246ARGGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054283Diseasep.GLY252ARGGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_005471Diseasep.GLY367ARGGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054303Diseasep.GLY434SERGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054280Polymorphismp.GLY244VALN/A
Swiss-ProtVAR_005470Diseasep.GLY364VALGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054300Diseasep.GLY399VALGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054293Diseasep.ILE360ASNGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009695Diseasep.ILE477ASNGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054292Diseasep.ILE345METGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009692Diseasep.ILE465METGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_005477Diseasep.ILE499PHEGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_005475Diseasep.ILE477SERGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054309Diseasep.ILE499SERGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054279Polymorphismp.LEU215PRON/A
Swiss-ProtVAR_054276Polymorphismp.LEU95PRON/A
Swiss-ProtVAR_009685Polymorphismp.LYS398ARGN/A
Swiss-ProtVAR_009699Polymorphismp.LYS500ARGN/A
Swiss-ProtVAR_009689Diseasep.LYS423GLUGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054295Diseasep.PHE369LEUGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009665Polymorphismp.PHE4SERN/A
Swiss-ProtVAR_054286Diseasep.PRO274ARGGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054269Polymorphismp.PRO16LEUN/A
Swiss-ProtVAR_005472Diseasep.PRO370LEUGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009696Diseasep.PRO481LEUGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009680Diseasep.PRO361SERGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009697Diseasep.PRO481THRGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009684Diseasep.SER393ARGGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054299Diseasep.SER393ASNGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009674Polymorphismp.SER203PHEN/A
Swiss-ProtVAR_054290Diseasep.SER341PROGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009690Polymorphismp.SER425PRON/A
Swiss-ProtVAR_009700Diseasep.SER502PROGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009679Polymorphismp.THR353ILEN/A
Swiss-ProtVAR_054304Diseasep.THR438ILEGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009676Diseasep.THR293LYSGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054296Diseasep.THR377LYSGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009681Diseasep.THR377METGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054305Diseasep.THR448PROGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009675Diseasep.TRP286ARGGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054308Polymorphismp.TYR471CYSN/A
Swiss-ProtVAR_009694Polymorphismp.TYR473CYSN/A
Swiss-ProtVAR_005474Diseasep.TYR437HISGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_054282Diseasep.VAL251ALAGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_008969Diseasep.VAL53ALAGlaucoma 1, open angle, A (GLC1A)
Swiss-ProtVAR_009686Polymorphismp.VAL402ILEN/A
Swiss-ProtVAR_009698Polymorphismp.VAL495ILEN/A
Swiss-ProtVAR_009677Polymorphismp.VAL329METN/A
Swiss-ProtVAR_005473Diseasep.VAL426PHEGlaucoma 1, open angle, A (GLC1A)
OMIM601652.0011 Diseasep.ARG46TERGLAUCOMA 1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE
OMIM601652.0006 Diseasep.ASN480LYSGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0017 Diseasep.ASP380HISGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0012 Diseasep.CYS433ARGGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0015 Diseasep.CYS245TYRGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0009 Diseasep.GLN337ARGGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0014 Diseasep.GLN48HISGLAUCOMA 1, OPEN ANGLE, A||GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC, INCLUDED
OMIM601652.0003 Diseasep.GLN368TERGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0016 Diseasep.GLY252ARGGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0008 Diseasep.GLY367ARGGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0002 Diseasep.GLY357VALGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0013 Diseasep.GLY399VALGLAUCOMA 1, OPEN ANGLE, A, DIGENIC
OMIM601652.0018 Diseasep.ILE477ASNGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0005 Diseasep.ILE477SERGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0010 Diseasep.LYS423GLUGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0004 Diseasep.PRO370LEUGLAUCOMA 1, OPEN ANGLE, A
OMIM601652.0001 Diseasep.TYR437HISGLAUCOMA 1, OPEN ANGLE, A



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