ABCA3 p.Leu303Val
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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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54
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] + [?]
X
ABCA3 p.Leu303Val 22068586:54:758
status: NEW79 BALF analysis Western blot analysis of surfactant proteins (Fig. 4) was performed in seven patients, who had the following ABCA3 mutations: p.D253H (patient 2), p.T1173R (patient 1), p.L462R/ p.G964S (patient 3), p.G202R/p.L303V (patient 7), p.Y963C (patient 8), p.R1583W/p.S128Rfs (patient 4) and p.S872G (patient 10), respectively.
X
ABCA3 p.Leu303Val 22068586:79:223
status: NEW80 SP-C (Fig. 4A) and SP-B (Fig. 4B) were detected at a size of 3.7 and 8 kDa in variable amounts, the smallest amount being found in the patient with the p.G202R/p.L303V ABCA3 mutation (patient 7) in whom SP-C and SP-B are only faintly visible.
X
ABCA3 p.Leu303Val 22068586:80:162
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] + [?]
X
ABCA3 p.Leu303Val 22068586:56:758
status: NEW81 BALF analysis Western blot analysis of surfactant proteins (Fig. 4) was performed in seven patients, who had the following ABCA3 mutations: p.D253H (patient 2), p.T1173R (patient 1), p.L462R/ p.G964S (patient 3), p.G202R/p.L303V (patient 7), p.Y963C (patient 8), p.R1583W/p.S128Rfs (patient 4) and p.S872G (patient 10), respectively.
X
ABCA3 p.Leu303Val 22068586:81:223
status: NEW82 SP-C (Fig. 4A) and SP-B (Fig. 4B) were detected at a size of 3.7 and 8 kDa in variable amounts, the smallest amount being found in the patient with the p.G202R/p.L303V ABCA3 mutation (patient 7) in whom SP-C and SP-B are only faintly visible.
X
ABCA3 p.Leu303Val 22068586:82:162
status: NEW