ABCMdb

ABCA4 p.Tyr808*

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Publications

PMID: 24632595 [PubMed] Zhou Y et al: "Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease."

No. Sentence Comment

8 Compound heterozygous variants p.Y808X and p.G607R of the ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4) gene, which encodes the ABCA4 protein, a member of the ATP-binding cassette (ABC) transport superfamily, were identified as causative mutations for Stargardt disease of this family. Login to comment
39 Our results identified two compound heterozygous disease-segregating mutations, c.C2424G, p.Y808X and c.G1819A, p.G607R, in the ABCA4 gene. Login to comment
109 In both patients we found two mutations c.C2424G (p.Y808X) and c.G1819A (p.G607R) satisfying a recessive compound heterozygous inheritance model (Table 3) in the gene ABCA4 (NM_000350.2). Login to comment
111 Sanger sequencing confirmed these two mutations in the two affected siblings and demonstrated that their parents were unaffected carriers of Y808X (father) and G607R (mother) mutations, showing complete co-segregation of the mutations with the disease phenotype (Figure 3). Login to comment
113 These data, together with the clinical presentation of the two affected siblings, demonstrated that p.G607R and p.Y808X variants in the gene ABCA4 was responsible for Stargardt disease in this family. Login to comment
115 The previously reported mutation p.G607R of ABCA4 was predicted to be damaging and the novel mutation c.C2424G, p.Y808X in the affected families introduced a stop codon, which removed 1465 amino acids from the ABCA4 protein (2273 amino acids), according to GenBank accession number NM_000350.2. Login to comment
119 Mutation Y808X, located within exon 16, results in a nonsense mutation, and the mRNA with a premature stop codon is likely to be degenerated by the nonsense-mediated mRNA decay response, thus leading to a decrease in ABCA4 expression. Login to comment
131 Our result also indicated that G607R occurs in the ECD1 domain, while Y808X occurs in the disc lumen region between TMD1 (Figure 4B). Login to comment
146 (A) Protein alignment showed conservation of residues ABCA4 Y808X and G607R across nine species. Login to comment
148 The ABCA4 mutation G607R occured in the NBD1 while Y808X occured in the disc lumen region between TMD1. Login to comment
157 In our study compound heterozygous mutations p.Y808X and p.G607R of the ABCA4 gene were identified. Login to comment
160 The novel stopgain p.Y808X mutation in exon 16 was detected in a heterozygous state, close to the previously reported mutation p.G818E [11]. Login to comment