NDP Mutations in Exons and Introns 1 and 2
Schematic drawing of the NDP gene and the Norrin protein:
Mutations have been compiled from the literature (Pubmed database entries, meeting abstracts, etc.) by:
Wolfgang Berger, Ulrich Luhmann and Nikolaus Schäfer.
| Exon / Intron | DNA Level** | Protein Level** | Phenotype | References* |
| Exon 1 | c.-391_380delinsGTCTCTC | - (5´-UTR) | ROP (4 & 5) | Talks, 2001 |
| Exon 1 | c.-386_310del | - (5´-UTR) | ROP (3/5) | Talks, 2001 |
| Exon 1 | ins 12 bp (CT repeat) | - (5´-UTR) | ND, ROP (4B & 5) | Hiraoka, 2001; Wu, 2007 |
| Exon 1 | ins 10 bp (CT repeat) | - (5´-UTR) | ND | Schuback, 1995 |
| Exon 1 | del 14 bp (CT repeat) | - (5-´UTR) | ROP, RS | Hiraoka, 2001; Dickinson, 2006; Wu, 2007 |
| Intron 1 | c.-208+1G>A | - (splicing) | ND | Fuchs, 1996 |
| Intron 1 | c.-208+2T>G | - (splicing) | ND | Nikopoulos, 2010 |
| Intron 1 | c.-208+5G>A | - (splicing) | ND | Nikopoulos, 2010 |
| Exon 2 | c.1A>G | p.M1? | ND | Isashiki, 1995; Gal, 1996; Berger unpublished |
| Exon 2 | c.2_3del | p.0? | ND | Caballero, 1996 |
| Exon 2 | c.2T>G | p.M1R | ND | Schuback, 1995 |
| Exon 2 | c.11_12del | p.H4RfsX21 | ND | Nikopoulos, 2010 |
| Exon 2 | c.24_27dup | p.F10IfsX17 | ND | Berger, 1992 |
| Exon 2 | c.25_40del | p.S9PfsX4 | ND | Nikopoulos, 2010 |
| Exon 2 | c.38T>G | p.L13R | ND | Fuchs, 1994 |
| Exon 2 | c.44T>G | p.L15R | ND | Berger unpublished |
| Exon 2 | c.47T>C | p.L16P | ND | Yamada, 2001 |
| Exon 2 | c.49delG | p.V17fsX1 | ND | Waryah, 2011 |
| Exon 2 | c.50dup | p.I18DfsX8 | ND | Gal, 1996 |
| Exon 2 | c.53T>A | p.I18K | ND, FEVR | Kondo, 2007; Shima, 2009 |
| Exon 2 | c.65del | p.T22KfsX10 | ND | Schuback, 1995 |
| Exon 2 | c.86C>G | p.S29X | ND | Meindl, 1992 |
| Exon 2 | c.103del | p.D35TfsX6 | ND | Chynn, 1996 |
| Exon 2 | c.109C>T | p.R37X | ND | Ott, 2000 |
| Exon 2 | c.112C>T | p.R38C | ND, FEVR, PHPV | Royer 2003; Riveiro-Alvarez, 2005 |
| Exon 2 | c.115T>C | p.C39R | ND | Joos, 1994; Wu, 2007 |
| Exon 2 | c.122G>A | p.R41K | EVR, sporadic | Shastry, 1997 |
| Exon 2 | c.122G>C | p.R41T | ND | Pelcastre, 2010 |
| Exon 2 | c.123G>C | p.R41S | PFV | Wu, 2007 |
| Exon 2 | c.123G>T | p.R41S | PFV | Dhingra, 2006 |
| Exon 2 | c.125A>G | p.H42R | FEVR, EVR (sporadic) | Shastry, 1997; Wu, 2007 |
| Exon 2 | c.128dup | p.H43QfsX14 | ND | Caballero, 1996 |
| Exon 2 | c.128A>G | p.H43R | ND | Dickinson, 2006 |
| Exon 2 | c.129C>G | p.H43Q | ND | Royer, 2003 |
| Exon 2 | c.129del | p.Y44MfsX60 | ND | Nikopoulos, 2010 |
| Exon 2 | c.131A>G | p.Y44C | ND | Meindl, 1992 |
| Exon 2 | c.131dup | p.Y44X | ND, PHPV, sporadic | Hatsukawa, 2002 |
| Exon 2 | c.133G>A | p.V45M | ND | Royer, 2003 |
| Exon 2 | c.134T>A | p.V45E | ND, MR | Lev, 2007 |
| Exon 2 | c.136del | p.D46IfsX58 | ND | Schuback, 1995 |
| Exon 2 | c.142_145del | p.I48VfsX55 | ND | Zhu, 1994 |
| Exon 2 | c.162G>C | p.K54N | ND, FEVR | Hoefsloot, 2000; Kondo, 2007; Boonstra, 2009 |
| Exon 2 | c.163T>C | p.C55R | ND | Nikopoulos, 2010 |
| Exon 2 | c.164G>A | p.C55F | ND | Yang et al. 2012 |
| Exon 2 | c.170C>G | p.S57X | ND | Berger, 1992 |
| Exon 2 | c.174G>T | p.K58N | ND, EVR (sporadic) | Fuentes, 1993; Shastry, 1997 |
| Intron 2 | c.174+1G>T | - (splicing) | ND | Berger unpublished |
| Intron 2 | c.174+1G>C | - (splicing) | ND | Fuchs, 1996 |
| Intron 2 | c.174+5G>C | - (splicing) | ND | Berger, 1992; Fuchs, 1996 |
| Intron 2 | c.175-1G>C | - (splicing) | ND | Royer, 2003 |
| Intron 2 | c.175-1G>A | - (splicing) | ND, FEVR | Kondo, 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.
Go to:
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