ABCA4 p.Arg24Cys
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PMID: 15494742
[PubMed]
Klevering BJ et al: "Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa."
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Single-strand conformation polymorphism (SSCP) analysis and subsequent DNA sequencing revealed four novel missense mutations (R24C, E161K, P597S, G618E) and a novel 1-bp deletion (5888delG).
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ABCA4 p.Arg24Cys 15494742:3:126
status: NEW43 The presence of R24C (70C4T) was analyzed using HinfI restriction fragment analysis of PCR-amplified exon 2.
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ABCA4 p.Arg24Cys 15494742:43:16
status: NEW55 Likewise, the 2588C and 2828A variants are presumed to be located in the same allele since the 2588C allele in previous studies was always found together with 2828A (see Discussion).33,49 Next, we employed SSCP analysis and DNA sequencing in patients with one ABCA4 mutation and identified five novel ABCA4 mutations that were not present on the microarray, that is, R24C, E161K, P597S, G618E, and 5888delG.
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ABCA4 p.Arg24Cys 15494742:55:367
status: NEW60 15429 Isolated 52C4T R18W 70C4T R24C ?
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ABCA4 p.Arg24Cys 15494742:60:32
status: NEW143 Given this clinical presentation and the fact that homozygous null mutations were not found Table 5 Functional assessment of missense (A) and splice site (B) mutations (A) Missense mutation Nature of amino-acid change Effect on ABCR functionRef R18W Nonconservative Unknown R24C Nonconservative Unknown; adjacent to first transmembrane domain G65E Nonconservative Unknown E161K Nonconservative Unknown L541P Conservative Decreased ATP binding and ATPase activity50 P597S Nonconservative Unknown G618E Nonconservative Unknown V767D Nonconservative Decreased ABCR expression10 G863A Nonconservative Decreased ATPase activity50, 51 R943Q Nonconservative Decreased ATPase activity51 A1038V Conservative Decreased ATP binding and ATPase activity50 E1087K Nonconservative Decreased ATP binding50 V1433I Conservative Unknown R1640W Nonconservative Unknown A1794D Nonconservative Introduction charged aa in 10th transmembrane domain G1961E Nonconservative Decreased ATP binding and ATPase activity 50 V2050L Conservative Unknown D2177N Nonconservative Increased ATPase activity50 (B) Splice site mutation Effect on mRNARef Predicted effect on ABCR protein 768G4T Nonsense-mediated decay33 No protein IVS36+2T4C Unknown Truncation of exon 36 resulting in V1673fs?
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ABCA4 p.Arg24Cys 15494742:143:274
status: NEW