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Table 2 List of identified pathogenic mutations across ABCA4 in STGD1 patients. Genetic analysis of 28 unrelated probands identified ABCA4 mutation genomic position, nucleotide change and zygosity. Representative symbols show the repository servers used to identify the global allele frequency of variants in healthy control population: & The Exome Aggregation Consortium (ExAC); # Trans-Omics for Precision Medicine (TOPMed) Program; * The Genome Aggregation Database (gnomAD). Mutations observed in different location of ABCA4 membrane: Transmembrane domain-1 (TMD-1); Transmembrane domain-2 (TMD-2); Extracellular domain-1 (ECD-1); Extracellular domain-2 (ECD-2); Nucleotide binding domain-1 (NBD-1); Nucleotide binding domain-2 (NBD-2)

From: Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

ID Exon/Intron c.DNA change Amino acid change Variant Class Zygosity Method MAF dbSNP SIFT PolyPhen MetaLR MT Domain Reference
2 30 c.C4506A C1502Ter Stop Codon Homozygous Sanger 0.00001653& rs61750149 DC ECD2 [25]
4 14 c.C1995A Y665Ter Stop Codon Homozygous Sanger 0.000008536& rs757302286 DC TMD1 [26]
8 13 c.G1819A G607R Missense Homozygous Sanger 0.00002502& rs61749412 D(0) PD (1) D(0.933) DC ECD1 [27]
9 9 c.G1188A G396C Missense Homozygous Sanger N/A rs866219294 D(0) PD(0.995) D (0.804) DC ECD1 This study
10 12 c.G1556 T C519F Missense Homozygous Sanger Novel D(0) PD(0.999) DC ECD1 This study
11 35 c.T4956G Y1652Ter Stop Codon Homozygous Sanger N/A rs61750561 DC ECD2 [28]
13 42 c.G5882A G1961E Missense Homozygous Sanger 0.005054& rs1800553 D(0) PD(0.998) D(0.7) DC TMD2 [29]
17 48 c.C6658T Q2220Ter Stop Codon Homozygous Sanger 0.00000828& rs61753046 DC NBD2 [30]
18 48 c.C6658T Q2220Ter Stop Codon Homozygous Sanger 0.00000828& rs61753046 DC NBD2 [30]
22 44 c.A6095G H2032R Missense Homozygous Sanger 0.00000796# rs1242866408 D (0) PD (1) D (0.924) DC NBD2 [31]
24 19 c.C2900T A967V Missense Homozygous Sanger 0.000003979* rs1291080436 D (0) PD (0.99) D (0.977) DC NBD1 This study
25 3,42 c.A217T/c.G5882A I73F, G1961E Missense/Missense Homozygous ES 0.005054 Novel/rs1800553 D(0)/ D(0) D(0.92)/PD(0.998) D(0.983)/D(0.7) DC ECD1/NBD2 This study/[29]
26 19 c.C2912A T971A Missense Homozygous ES 0.000003980* rs61749450 D (0) PD(0.999) D (0.989) DC NBD1 [6]
27 22 c.G3323A A1108H Missense Homozygous ES 0.00001649& rs61750121 DC NBD1 [32]
28 19 c.C2912A T971A Missense Homozygous ES 0.0000039804 rs61749450 D(0) PD(0.999) D (0.989) DC NBD1 [6]
19 14,19,42 c.C1995A/c.C2912A/c.G5882A Y665Ter/T971A/G1961E Stop codon/Missense Compound Heterozygous Sanger 0.000008536/0.000003980/0.005054/ rs757302286/rs61749450/rs1800553 −/D(0) PD(0.998) −/D(0.7) DC TMD1/NBD1/TMD2 [6, 29, 33]
20 46,48 c.6355DelC/c.C6658T Q2220Ter Del/Missense Compound Heterozygous Sanger 0.00000828 rs61753046 −/− −/− −/− DC NBD2/NBD2 This study/[30]
21 26,33 c.C3830T/(c.4774-2A > G) T1277 M Missense/Splice variant Compound Heterozygous Sanger 0.0003133& rs374565343/Novel D(0.03) PD(0.835) D (0.61) DC NBD1/ECD2 This study/[30]
5 14 c.C1995A Y665Ter Stop Codon Heterozygous Sanger 0.000008536 rs757302286 DC TMD1 [26]
6 26 c.C3830T T1277 M Missense Heterozygous Sanger 0.0003133 rs374565343 D(0.03) PD(0.835) D (0.61) DC NBD1 [34]
14 40 c.5710delCAATGinsA Ins/Del Heterozygous Sanger Novel DC NBD2 This study
  1. IVR = intronic variant region; ES = exome sequencing; MAF = minor allele frequency; D = deleterious; PD = possible or probably damaging; DC = disease-causing; N/A = not available; dbSNP = database of single nucleotide polymorphisms; SIFT = The Sorting Intolerant from Tolerant; MT = mutation taster