Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles

Table 1

Frequency of 40 distinct mutations detected in 59 Greek patients with presumed STGD1.

Mutation number	Amino acid change	Nucleotide change	Exon	Number of alleles detected	Frequency	References
1	p.Trp12	c.36G>A	1	1	0.8%	This study
2	p.Arg18Trp	c.52C>T	1	2	1.6%	[33]
3	p.Asn76Thr	c.227A>C	3	1	0.8%	This study
4	p.Pro143Leu	c.428C>T	4	1	0.8%	[13]
5	p.Arg107	c.319C>T	4	1	0.8%	[34]
6	NA	c.571-2Α>Τ	Intron 5	1	0.8%	[35]
7	p.Arg212Cys	c.635C>T	6	2	1.6%	[33]
8	p.Arg220Cys	c.658C>T	6	1	0.8%	[11]
9	p.Arg290Trp	c.868C>T	8	1	0.8%	[36]
10	p.Asn380Lys	c.1140T>A	9	1	0.8%	[11]
11^a	p.Leu541Pro	c.1622T>C	12	10	8.5%	[37]
12	p.Gly607Arg	c.1819G>A	13	4	3.3%	[10]
13	p.Asp645Asn	c.1933G>A	13	1	0.8%	[9]
14	p.Ser673Argfs6	c.2019_2031del13	14	1	0.8%	This study
15	p.Cys698Arg	c.2092T>C	14	1	0.8%	This study
16	p.Ser795Argfs43	c.2385_2400delCTTACTGTCTCCGGTG	16	1	0.8%	[38]
17	p.Gln876	c.2626C>T	17	1	0.8%	[39]
18	p.Ala1038Val	c.3113C>T	21	6	5.1%	[3]
19	p.Arg1108Cys	c.3322C>T	22	2	1.6%	[37]
20	p.Arg1108Leu	c.3323G>T	22	1	0.8%	[36]
21	p.Glu1087Lys	c.3259G>A	22	1	0.8%	[3]
22	p.Met1115Cysfs33	c.3342delC	23	1	0.8%	[36]
23	p.Glu1122Lys	c.3364G>A	23	1	0.8%	[9]
24	p.Glu1271Gly	c.3812A>G	25	1	0.8%	[40]
25	p.Gln1412	c.4234C>T	28	1	0.8%	[12]
26	p.Trp1449	c.4346G>A	29	1	0.8%	[9]
27	NA	c.4352+1G>A	Intron 29	3	2.5%	[18, 40, 41]
28	NA	c.4352+4A>C	Intron 29	1	0.8%	This study
29	p.Cys1488Arg	c.4462T>C	30	1	0.8%	[9]
30	p.Gly1591Arg	c.4771G>A	33	1	0.8%	[42]
31	p.Arg1640Trp	c.4918C>T	35	1	0.8%	[37]
32	p.His1625Gln	c.4875T>A	35	1	0.8%	[13]
33	p.Ser1696Asn	c.5087G>A	36	1	0.8%	[9]
34	NA	c.5714+5G>A	Intron 40	19	16.1%	[30]
35	NA	c.5714+1G>C	Intron 40	3	2.5%	This study
36	p.Gly1961Glu	c.5882G>A	42	18	15.2%	[43]
37	p.Val1973	c.5917delG	43	3	2.5%	[10]
38	p.Leu2026Pro	c.6077T>C	44	1	0.8%	[44]
39	p.Arg2038Trp	c.6112C>T	44	1	0.8%	[3]
40	p.Gly2146Asp	c.6437G>A	47	1	0.8%	[36]

^a4 times was detected as single and 6 times as complex with p.A1038V.