Journal of Ophthalmology / 2012 / Article / Tab 1 / Review Article
The Role of FRMD7 in Idiopathic Infantile Nystagmus Table 1 A list of the FRMD7 mutations associated with idiopathic infantile nystagmus (IIN). Del: deletion, Ins: insertion, T: truncation, N: nonsense, M: missense, and S: splice.
Mutation Class Exon/intron affected Reference DNA Protein c.41_43delAGA p.K14del del Exon 1 [25 ] [4 ] c.47T>C p.F16S M Exon 1 [37 ] c.57+5G>A S Intron 1 [15 ] c.58-1G>A S Intron 1 [37 ] c.58C>T p.Q20X N/T Exon 2 [15 ] c.70G>A p.G24R M Exon 2 [25 ] [4 ] c.70G>T p.G24W M Exon 2 [26 ] c.71G>A p.G24E M Exon 2 [4 ] c.162+5G>A S Intron 2 [4 ] c.205+2T>G S Intron 3 [4 ] c.252G>A p.V84V S Exon 4 [4 ] c.284+1G>A S Intron 4 [4 ] [16 ] c.425T>G p.L142R M Exon 6 [27 ] [4 ] c.436C>T p.R146W M Exon 6 [25 ] c.479_480insT p.F161LfsX172 Ins/T Exon 6 [4 ] c.498-2A>G S Intron 6 [15 ] c.601C>T p.Q201X N/T Exon 7 [4 ] c.623A>G p.H208R M Exon 7 [24 ] c.645+1G>C S Intron 7 [4 ] c.661A>G p.N221D M Exon 8 [4 ] c.673T>G p.W225G M Exon 8 [15 ] c.676G>A p.A226T M Exon 8 [4 ] c.685C>T p.R229C M Exon 8 [25 ] c.685C>G p.R229G M Exon 8 [17 ] c.691T>G p.L231V M Exon 8 [4 ] c.694_695delAG p.S232FfsX233 del/T Exon 8 [26 ] c.781C>G p.R261G M Exon 9 [28 ] c.782G>A p.R260Q M Exon 9 [26 ] c.796G>C p.A266P M Exon 9 [4 ] c.811T>A p.C271S M Exon 9 [37 ] c.812G>T p.C271F M Exon 9 [26 ] [29 ] c.812G>A p.C271Y M Exon 9 [4 ] c.814G>T p.V272L M Exon 9 [30 ] c.824A>C p.H275P M Exon 9 [15 ] c.880_881insA p.S294KfsX302 Ins/T Exon 9 [16 ] c.886G>C p.G296R M Exon 9 [28 ] c.887delG p.G296VfsX318 del/T Exon 9 [4 ] c.902A>G p.Y301C M Exon 9 [4 ] c.910C>T p.R303X N/T Exon 10 [26 ] c.1003C>T p.R335X N/T Exon 11 [4 ] [28 ] c.1019C>T p.S340L M Exon 11 [4 ] c.1050+1G>A S Intron 11 [4 ] c.1262delC p.P421LfsX443 del/T Exon 12 [4 ] c.1275_1276delTG p.E426AfsX429 del/T Exon 12 [31 ]