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Institut für Medizinische Molekulargenetik

NDP Mutations in Exons and Introns 1 and 2

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 / IntronDNA Level**Protein Level**PhenotypeReferences*
Exon 1c.-391_380delinsGTCTCTC- (5´-UTR)ROP (4 & 5)Talks, 2001
Exon 1c.-386_310del - (5´-UTR)ROP (3/5)Talks, 2001
Exon 1ins 12 bp (CT repeat)- (5´-UTR)ND, ROP (4B & 5)Hiraoka, 2001; Wu, 2007
Exon 1ins 10 bp (CT repeat)- (5´-UTR)NDSchuback, 1995
Exon 1del 14 bp (CT repeat)- (5-´UTR)ROP, RSHiraoka, 2001; Dickinson, 2006; Wu, 2007
Intron 1c.-208+1G>A- (splicing)NDFuchs, 1996
Intron 1c.-208+2T>G- (splicing)NDNikopoulos, 2010
Intron 1c.-208+5G>A - (splicing)NDNikopoulos, 2010
Exon 2c.1A>Gp.M1?NDIsashiki, 1995; Gal, 1996; Berger unpublished
Exon 2c.2_3delp.0?NDCaballero, 1996
Exon 2c.2T>Gp.M1RNDSchuback, 1995
Exon 2c.11_12delp.H4RfsX21NDNikopoulos, 2010
Exon 2c.24_27dupp.F10IfsX17NDBerger, 1992
Exon 2c.25_40delp.S9PfsX4NDNikopoulos, 2010
Exon 2c.38T>Gp.L13RNDFuchs, 1994
Exon 2c.44T>Gp.L15RNDBerger unpublished
Exon 2c.47T>Cp.L16PNDYamada, 2001
Exon 2c.49delGp.V17fsX1NDWaryah, 2011
Exon 2c.50dupp.I18DfsX8NDGal, 1996
Exon 2c.53T>Ap.I18KND, FEVRKondo, 2007; Shima, 2009
Exon 2c.65delp.T22KfsX10NDSchuback, 1995
Exon 2c.86C>Gp.S29XNDMeindl, 1992
Exon 2c.103delp.D35TfsX6NDChynn, 1996
Exon 2c.109C>Tp.R37XNDOtt, 2000
Exon 2c.112C>Tp.R38CND, FEVR, PHPVRoyer 2003; Riveiro-Alvarez, 2005
Exon 2c.115T>Cp.C39RNDJoos, 1994; Wu, 2007
Exon 2c.122G>Ap.R41KEVR, sporadicShastry, 1997
Exon 2c.122G>Cp.R41TNDPelcastre, 2010
Exon 2c.123G>Cp.R41SPFVWu, 2007
Exon 2c.123G>Tp.R41SPFVDhingra, 2006
Exon 2c.125A>Gp.H42RFEVR, EVR (sporadic)Shastry, 1997; Wu, 2007
Exon 2c.128dupp.H43QfsX14NDCaballero, 1996
Exon 2c.128A>Gp.H43RNDDickinson, 2006
Exon 2c.129C>Gp.H43QNDRoyer, 2003
Exon 2c.129delp.Y44MfsX60NDNikopoulos, 2010
Exon 2c.131A>Gp.Y44CNDMeindl, 1992
Exon 2c.131dupp.Y44XND, PHPV, sporadicHatsukawa, 2002
Exon 2c.133G>Ap.V45MNDRoyer, 2003
Exon 2c.134T>Ap.V45END, MRLev, 2007
Exon 2c.136delp.D46IfsX58NDSchuback, 1995
Exon 2c.142_145delp.I48VfsX55NDZhu, 1994
Exon 2c.162G>Cp.K54NND, FEVRHoefsloot, 2000; Kondo, 2007; Boonstra, 2009
Exon 2c.163T>Cp.C55RNDNikopoulos, 2010
Exon 2c.164G>Ap.C55FNDYang et al. 2012
Exon 2c.170C>Gp.S57XNDBerger, 1992
Exon 2c.174G>Tp.K58NND, EVR (sporadic)Fuentes, 1993; Shastry, 1997
Intron 2c.174+1G>T- (splicing)NDBerger unpublished
Intron 2c.174+1G>C- (splicing)NDFuchs, 1996
Intron 2c.174+5G>C- (splicing)NDBerger, 1992; Fuchs, 1996
Intron 2c.175-1G>C- (splicing)NDRoyer, 2003
Intron 2c.175-1G>A- (splicing)ND, FEVRKondo, 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.

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Large Deletions
Exon and intron 1 and 2 mutations
Exon 3 mutations

Abbreviations:

(F)EVR = (Familial) Exudative Vitreoretinopathy
MR = Mental Retardation
ND = Norrie Disease
PFV = Persistent Fetal Vasculature
PHPV = Primary Hyperplastic Persistent Vitreous
ROP = Retinopathy Of Prematurity
RS = Retinoschisis
UTR = Untranslated Region

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