Molecular Vision: Iqbal, Mol Vis 2020; 26:334-344. Table 3

Table 3. Summary of cataract-causing mutations identified in FYCO1.

Exon/ Intron	DNA Change	Protein Change	Type	Population	Reference
Ex6	c.449T>C	p.I150T	Missense	KSA	34
Ex8	c.808C>T and IVS12; c.3587+1G>T	p.Q270X/ splice variant	Compound heterozygous	China	53
Ex8	c.1045C>T	p.Q349X	Nonsense	Pakistan	17
Ex8	c.l056_1071delGGCCACACGGGACTCA	p.E352DfsX9	Frameshift	Iran	56
Ex8	c.1546C>T	p.Q516X	Nonsense	Israel	17
Ex8	c.1621C>T	p.Q541X	Nonsense	Russia	55
Ex8	c.2206C>T	p.Q736X	Nonsense	Pakistan	17
Ex8	c.2206C>T	p.Q736X	Nonsense	Egypt	50
Ex8	c.2206C>T	p.Q736X	Nonsense	Pakistan	18
Ex8	c.2345delA	p.Q782RfsX32	Frameshift	Pakistan	18
Ex8	c.2345delA/ c.2714_2715delCA	p.Q782RfsX32/ p.T905SfsX2	Compound heterozygous	KSA/ UAE	54
Ex8	c.2506delG	p.A836PfsX80	Frameshift	KSA	51
Ex8	c.2761C>T	p.R921X	Nonsense	Pakistan	17
Ex8	c.2830C>T	p.R944X	Nonsense	Pakistan	17
IVS9	c.3150+1G>T	Splice variant	Splice variant	Pakistan	17
IVS9	c.3151–2A>C	p.A1051DfsX27	Frameshift	Pakistan	18
Ex10	c.3196delC	p.H1066IfsX10	Frameshift	Pakistan	This Study
Ex13	c.3670C>T	p.R1224X	Nonsense	UK	52
Ex13	c.3755delC	p.A1252DfsX71	Frameshift	Pakistan	17
Ex14	c.3858_3862dupGGAAT	p.L1288WfsX37	Frameshift	Pakistan	17
IVS14	c.3945–1G>C	Splice variant	Splice variant	UK	52
Ex16	c.4127T>C	p.L1376P	Missense	Pakistan	17
Ex16	c.4127T>C	p.L1376P	Missense	Pakistan	This Study
Ex17	c.4270C>T	p.R1424X	Nonsense	Pakistan	This Study