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]