ABCA3 p.Arg1521Trp
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PMID: 22068586
[PubMed]
Flamein F et al: "Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children."
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Sentence
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41
Analysis of genomic DNA from the parents and kindred showed that the compound heterozygous p.R1583W/ p.S128Rfs (Fig. 1A) and p.R208W/p.R1521W (Fig. 1B) mutations were inherited, as well as the homozygous mutations p.T1173R (Fig. 1C) and p.D253H (Fig. 1D).
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ABCA3 p.Arg1521Trp 22068586:41:135
status: NEW54 Genetic analysis results in the 10 children harboring homozygous and compound heterozygous (shaded) or heterozygous ABCA3 mutations Patient NRD Clinical outcome ABCA3 mutation ABCA3 SNPs ABCA3 variants cDNA level Protein level dbSNPs rs# cluster id Missense variants in conserved amino acid 1 Yes ILD c.[3518C.G] + [3518C.G] p.[T1173R] + [T1173R] rs149532, rs13332514 2 Yes ILD c.[757G.C] + [757G.C] p.[D253H] + [D253H] 3 Yes Death c.[1385T.G] + [2890G.A] p.[L462R] + [G964S] rs149532 4 Yes Death c.[4747C.T] + c.[384delC] p.[R1583W] + p.[S128Rfs] rs149532 c.[450G.A] (het) 5 No Death c.[629G.T] + [3079G.C] p.[G210V] + [A1027P] rs149532 6 Yes ILD c.[622C.T] + [4561C.T] p.[R208W] + [R1521W] rs149532, rs323043 7 Yes Death c.[604G.C] + [907C.G] p.[G202R] + [L303V] rs149532, rs323043 (het), rs13332514 8 Yes Death c.[2888A.G] + [?]
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ABCA3 p.Arg1521Trp 22068586:54:684
status: NEW68 Pedigree of the families with the ABCA3 mutations p.R1583W/p.S128Rfs (A), p.R1521W/R208W (B), p.T1173R/p.T1173R (C) and p.D253H/ p.T1173R (D).
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ABCA3 p.Arg1521Trp 22068586:68:76
status: NEW132 Finally, parents heterozygous for the p.R1583W, p.S128Rfs, p.R1521W or p.R208V mutations were not affected.
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ABCA3 p.Arg1521Trp 22068586:132:61
status: NEW43 Analysis of genomic DNA from the parents and kindred showed that the compound heterozygous p.R1583W/ p.S128Rfs (Fig. 1A) and p.R208W/p.R1521W (Fig. 1B) mutations were inherited, as well as the homozygous mutations p.T1173R (Fig. 1C) and p.D253H (Fig. 1D).
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ABCA3 p.Arg1521Trp 22068586:43:135
status: NEW56 Genetic analysis results in the 10 children harboring homozygous and compound heterozygous (shaded) or heterozygous ABCA3 mutations Patient NRD Clinical outcome ABCA3 mutation ABCA3 SNPs ABCA3 variants cDNA level Protein level dbSNPs rs# cluster id Missense variants in conserved amino acid 1 Yes ILD c.[3518C.G] + [3518C.G] p.[T1173R] + [T1173R] rs149532, rs13332514 2 Yes ILD c.[757G.C] + [757G.C] p.[D253H] + [D253H] 3 Yes Death c.[1385T.G] + [2890G.A] p.[L462R] + [G964S] rs149532 4 Yes Death c.[4747C.T] + c.[384delC] p.[R1583W] + p.[S128Rfs] rs149532 c.[450G.A] (het) 5 No Death c.[629G.T] + [3079G.C] p.[G210V] + [A1027P] rs149532 6 Yes ILD c.[622C.T] + [4561C.T] p.[R208W] + [R1521W] rs149532, rs323043 7 Yes Death c.[604G.C] + [907C.G] p.[G202R] + [L303V] rs149532, rs323043 (het), rs13332514 8 Yes Death c.[2888A.G] + [?]
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ABCA3 p.Arg1521Trp 22068586:56:684
status: NEW70 Pedigree of the families with the ABCA3 mutations p.R1583W/p.S128Rfs (A), p.R1521W/R208W (B), p.T1173R/p.T1173R (C) and p.D253H/ p.T1173R (D).
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ABCA3 p.Arg1521Trp 22068586:70:76
status: NEW134 Finally, parents heterozygous for the p.R1583W, p.S128Rfs, p.R1521W or p.R208V mutations were not affected.
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ABCA3 p.Arg1521Trp 22068586:134:61
status: NEW