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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

IDExon/Intronc.DNA changeAmino acid changeVariant ClassZygosityMethodMAFdbSNPSIFTPolyPhenMetaLRMTDomainReference
230c.C4506AC1502TerStop CodonHomozygousSanger0.00001653&rs61750149DCECD2[25]
414c.C1995AY665TerStop CodonHomozygousSanger0.000008536&rs757302286DCTMD1[26]
813c.G1819AG607RMissenseHomozygousSanger0.00002502&rs61749412D(0)PD (1)D(0.933)DCECD1[27]
99c.G1188AG396CMissenseHomozygousSangerN/Ars866219294D(0)PD(0.995)D (0.804)DCECD1This study
1012c.G1556 TC519FMissenseHomozygousSangerNovelD(0)PD(0.999)DCECD1This study
1135c.T4956GY1652TerStop CodonHomozygousSangerN/Ars61750561DCECD2[28]
1342c.G5882AG1961EMissenseHomozygousSanger0.005054&rs1800553D(0)PD(0.998)D(0.7)DCTMD2[29]
1748c.C6658TQ2220TerStop CodonHomozygousSanger0.00000828&rs61753046DCNBD2[30]
1848c.C6658TQ2220TerStop CodonHomozygousSanger0.00000828&rs61753046DCNBD2[30]
2244c.A6095GH2032RMissenseHomozygousSanger0.00000796#rs1242866408D (0)PD (1)D (0.924)DCNBD2[31]
2419c.C2900TA967VMissenseHomozygousSanger0.000003979*rs1291080436D (0)PD (0.99)D (0.977)DCNBD1This study
253,42c.A217T/c.G5882AI73F, G1961EMissense/MissenseHomozygousES0.005054Novel/rs1800553D(0)/ D(0)D(0.92)/PD(0.998)D(0.983)/D(0.7)DCECD1/NBD2This study/[29]
2619c.C2912AT971AMissenseHomozygousES0.000003980*rs61749450D (0)PD(0.999)D (0.989)DCNBD1[6]
2722c.G3323AA1108HMissenseHomozygousES0.00001649&rs61750121DCNBD1[32]
2819c.C2912AT971AMissenseHomozygousES0.0000039804rs61749450D(0)PD(0.999)D (0.989)DCNBD1[6]
1914,19,42c.C1995A/c.C2912A/c.G5882AY665Ter/T971A/G1961EStop codon/MissenseCompound HeterozygousSanger0.000008536/0.000003980/0.005054/rs757302286/rs61749450/rs1800553−/D(0)PD(0.998)−/D(0.7)DCTMD1/NBD1/TMD2[6, 29, 33]
2046,48c.6355DelC/c.C6658TQ2220TerDel/MissenseCompound HeterozygousSanger0.00000828rs61753046−/−−/−−/−DCNBD2/NBD2This study/[30]
2126,33c.C3830T/(c.4774-2A > G)T1277 MMissense/Splice variantCompound HeterozygousSanger0.0003133&rs374565343/NovelD(0.03)PD(0.835)D (0.61)DCNBD1/ECD2This study/[30]
514c.C1995AY665TerStop CodonHeterozygousSanger0.000008536rs757302286DCTMD1[26]
626c.C3830TT1277 MMissenseHeterozygousSanger0.0003133rs374565343D(0.03)PD(0.835)D (0.61)DCNBD1[34]
1440c.5710delCAATGinsAIns/DelHeterozygousSangerNovelDCNBD2This 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