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Institut für Medizinische Molekulargenetik

NDP Mutations in Exon 3

Schematic drawing of the NDP gene and the Norrin protein:
 

NDP_gene

 

Mutations have been compiled from the literature (Pubmed database entries, meeting abstracts, etc.) by:
Wolfgang Berger, Ulrich Luhmann and Nikolaus Schäfer.

Exon DNA Level**Protein Level**PhenotypeReferences*
3c.179T>Ap.V60ENDMeindl, 1992
3c.181C>Tp.L61FND, VIBerger, 1992; Rehm, 1997
3c.181C>Ap.L61IFEVRWu, 2007
3c.182T>Cp.L61PNDSchuback, 1995
3c.185T>Cp.L62PNDZhu, 1994
3c.187G>Tp.A63SNDNovelli, 1999
3c.188C>Ap.A63DNDSchuback, 1995
3c.194G>Ap.C65YNDStrasberg, 1995; Wu, 2007
3c.195C>Gp.C65WNDSchuback, 1995
3c.196G>Ap.E66KPFV (unilateral)Aponte, 2009
3c.199G>Ap.G67RNDNikopoulos, 2010
3c.200G>Ap.G67ENDNikopoulos, 2010
3c.205delp.C69AfsX35NDSchuback, 1995
3c.206G>Ap.C69YNDM. Hodiwalla, personal commun.
3c.206G>Cp.C69SNDChen, 1993
3c.218C>Ap.S73XNDWalker, 1997
3c.220C>Tp.R74CND, FEVRBerger, 1992; Fuchs, 1996; Allen, 2006
3c.223T>Cp.S75PNDYamada, 2001
3c.224C>Gp.S75CNDBerger, 1992
3c.226G>Tp.E76XNDHutcheson, 2005
3c.236_240delp.S80QfsX67NDRiveiro-Alvarez, 2005
3c.267C>Ap.F89LNDNikopoulos, 2010
3c.267_268insCTCp.F89_R90insLNDHutcheson, 2005
3c.268delp.R90VfsX14NDLin, 2010
3c.268C>Tp.R90CNDRoyer, 2003
3c.269G>Cp.R90PNDBerger, 1992
3c.274T>Cp.S92PNDNikopoulos, 2010
3c.282_283ins8p.C95MfsX12NDSchuback, 1995
3c.283T>Cp.C95RND (severe)Isashiki, 1995
3c.284G>Tp.C95FND (severe)Khan, 2004
3c.285C>Ap.C95XND (severe)Wu, 2007
3c.287G>Ap.C96YND, EVR (sporadic)Berger, 1992; Meindl, 1992; Shastry, 1999
3c.288C>Gp.C96WCDBlack, 1999
3c.290G>Cp.R97PNDRivera-Vega, 2005; Kondo, 2007
3c.291delp.Q99RfsX5NDBerger, 1992
3c.293C>Tp.P98LNDNikopoulos, 2010
3c.302C>Tp.S101FND, PHPV (mild)Walker, 1997
3c.307C>Gp.L103VFEVRDickinson, 2006
3c.310A>Cp.K104QND (mild)Meindl, 1995
3c.312G>Tp.K104NNDRiveiro-Alvarez, 2006
3c.313G>Ap.A105TNDTorrente, 1997
3c.323T>Cp.L108PROP (4B/5)Shastry, 1997
3c.325C>Tp.R109XNDSchuback, 1995; Mintz-Hittner, 1996
3c.328T>Cp.C110RNDZhu, 1993; Fuchs, 1996
3c.328T>Gp.C110GFEVRTorrente, 1997
3c.328T>Ap.C110SNDBerger unpublished
3c.330C>Ap.C110XNDBerger, 1992
3c.332C>Ap.S111XNDNikopoulos, 2010
3c.333delp.G113AfsX149NDHutcheson, 2005
3c.335G>Ap.G112EFEVR (highly variable)Allen, 2006
3c.343C>Tp.R115XND, psychomotor retardation, epilepsy Liu, 2010
3c.344G>Tp.R115LFEVRKondo, 2007
3c.353C>Ap.A118DNDShastry, 1999
3c.359A>Gp.Y120CEVR (sporadic)Shastry, 1997
3c.360C>Ap.Y120XNDRiveiro-Alvarez, 2005
3c.360_368delp.R121_I123delNDSchuback, 1995
3c.361C>Gp.R121GND, PRDXZhu, 1994
3c.361C>Tp.R121WND, ND (mild), FEVR, ROPMeindl, 1995; Shastry, 1995; Kellner, 1996; Shastry, 1997; Wu, 2007
3c.362G>Ap.R121QND, ND (mild), FEVRFuentes, 1993; Meindl, 1995; Riveiro-Alvarez, 2005; Boonstra, 2009
3p.362G>Tp.R121LFEVR (highly variable)Johnson, 1996; Mintz-Hittner, 1996
3c.368T>Ap.I123NNDSchuback, 1995
3c.370C>Tp.L124FFEVRChen, 1993
3c.377G>Cp.C126SNDGal, 1996
3c.378T>Ap.C126XNDFuchs, 1996; Keller, 1996
3c.382T>Cp.C128RNDRoyer, 2003
3c.383_384delp.C128XNDWong, 1993; Hutcheson, 2005
3c.384C>Ap.C128XNDSchuback, 1995
3c.397delp.S133PfsX129NDBerger, 1992
3c.399delp.X134EfsX128NDRiveiro-Alvarez, 2008
3c.*716T>Cp.?FEVRWu, 2007

* Most of the cited references have multiple authors. For lack of space, we only included the last name of the first authors of the respective publications.

** Nomenclature was edited according to recommendations of the Human Genome Variation Society. Please let us know if you realize or recognize any mistranslation.

Abbreviations:

CD = Coats Disease
(F)EVR = (Familial) Exudative Vitreoretinopathy
ND = Norrie Disease
PFV = Persistent Fetal Vasculature
PHPV = Primary Hyperplastic Persistent Vitreous
PRDX = Primary Retinal Dysplasia
ROP = Retinopathy Of Prematurity
UTR = Untranslated Region
VI = Venous Insufficiency

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