Molecular Vision: Maia-Lopes, Mol Vis 2009; 15:584-591. Table 1

Table 1. ABCA4 gene (GDB370748, GenBank U88667.1) mutations identified in Portuguese STGD patients.

Family	Patient	CFC	Onset (age)	VA (OD/OS)	Nucleotide changes (exons)	Effect changes [references]
1	4427	S	7	1/10 / 1/10	c.286A>G(3) / c.4139C>T(28)	p.Asn96Asp [30]/p.Pro1380Leu [13]
	4413	S	14	1/10 / 0.5/10	c.286A>G(3) / c.4139C>T(28)	p.Asn96Asp [30]/p.Pro1380Leu [13]
	4454	S	11	1/10 / 1/10	c.286A>G(3) / c.4139C>T(28)	p.Asn96Asp [30]/p.Pro1380Leu [13]
2	4458	Mi	5	8/10 / 6/10	ND / ND	ND/ND
2	4455	S	8	1/10 / 8/10	ND / ND	ND/ND
3	4431	Mo	6	1,6/10 / 1,6/10	c.1804C>T(13) / c.IVS+5G>A(40)	p.Arg602Trp [30]/SPLICE [11]
4	4626	S	6	FC / FC	c.3211_3212insGT(22) / c.3211_3212insGT(22)	p.Asp1048fs [5]/p.Asp1048fs [5]
5	4514	S	12	1/10 / 1/10	c.32T>C(1) / c.[1A>G(1)]+[6089G>A(44)]	p.Leu11Pro [12]/p.(Met1Val [6])+(Arg2030Gln [9])
6	4525	Mo	14	1/10 / 1/10	ND / c.868C>T(8)	ND/p.Arg290Trp [6]
7	4585	Mo	11	0.5/10 / 0.5/10	c.6079C>T(44) / ND	p.Leu2027Phe [5]/ND
8	4678	Mo	9	0.5/10 / 1/10	c.3113C>T(21) / c.3602T>G(24)	p.Ala1038Val [5]/p.Leu1201Arg [9]
9	4675	Mo	7	0.5/10 / 1/10	c.2T<C(1) / c.2T<C(1)	p.Met1Thr/p.Met1Thr
10	4737	Mo	24	1.2/10 / 1.2/10	c.5882G>A(42) / c.3211_3212insGT(22)	p.Gly1961Glu [4]/p.Asp1048fs
11	4613	S	9	FC / FC	c.[4926C>G(35)]+[5041_5055del(36)] / c.32T>C(1)	p.(Ser1642Arg [10])+(Val1681_Cys1685del [10])/p.Leu11Pro
12	4796	Mo	43	1/10 / 3/10	c.4720G>T(33) / c.2791G>A(19)	p.Glu1574X/p.Val931Met [5]
13	4859	Mo	30	0.5/10 / 0.5/10	c.5882G>A(42) / ND	p.Gly1961Glu/ND
13	5472	Mo	30	6/10 / 8/10	c.5882G>A(42) / ND	p.Gly1961Glu/ND
14	4974	S	7	1/10 / 1/10	c.4036_4037delAC(27) / c.400C>T(4)	p.Thr1346fs/p.Gln134X
14	4975	S	7	1/10 / 1/10	c.4036_4037delAC(27) / c.400C>T(4)	p.Thr1346fs/p.Gln134X
15	5193	Mo	9	1/10 / 1/10	ND / ND	ND/ND
16	5138	Mo	27	1/10 / 1/10	ND / ND	ND/ND
17	5111	Mo	29	2.5/10 / 1.6/10	c.1928T>G(13) / ND	p.Val643Gly/ND
17	5137	Mo	25	3/10 / FC	ND / c.32T>C(1)	ND/p.Leu11Pro
18	5709	Mi	9	2/10 / 2/10	c.32T>C(1) / c.1804C<T(13)	p.Leu11Pro/p.Arg602Thr [9]
19	5434	Mo	17	2/10 / 2/10	c.[2791G>A(19)]+[4926C>G(35)] / c.[4926C>G(35)]+[5041_5055del(36)]	p.[Val931Met]+[Ser1642Arg]/ p.[Ser1642Arg]+[Val1681_Cys1685del]
20	5689	Mi	1	1/10 / 1/10	ND / ND	ND/ND
21	5917	Mi	9	0.5/10 / 2/10	ND / ND	ND/ND

The translation start codon ATG/methionine is numbered +1. Two sequence changes unreported in other populations [c.2T>C (p.Met1Thr) and c.4036_4037delAC (p.Thr1346fs)] and two novel disease-associated variants [c.400C>T (p.Gln134X) and c.4720G>T (p.Glu1574X)] were found (Families 9, 12 and 14). Exons affected and references of previously reported mutations are indicated in the columns ‘nucleotide changes’ and 'effect changes', respectively. CFC states for central fundus changes and is a measure of disease severity (Mi-mild; Mo-moderate; S-severe), as described previously by others [21].