ABCMdb

PMID: 20656946

van Moorsel CH, van Oosterhout MF, Barlo NP, de Jong PA, van der Vis JJ, Ruven HJ, van Es HW, van den Bosch JM, Grutters JC
Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.
Am J Respir Crit Care Med. 2010 Dec 1;182(11):1419-25. Epub 2010 Jul 23., [PubMed]

Sentences

No. Mutations Sentence Comment

56 ABCA3 p.Ser1262Gly Mutations SFTPC I73T and ABCA3 S1262G were genotyped with an Illumina GoldenGate bead single-nucleotide polymorphism assay (Illumina Inc., San Diego, CA). Login to comment 57 ABCA3 p.Ser1262Gly ABCA3 p.Arg288Lys Variations SFTPC M71V, SFTPC IVS412, and ABCA3 R288K were analyzed with high-resolution melting analysis (ABI Fast 7500RT; Applied Biosystems, Foster City, CA). Login to comment 58 ABCA3 p.Arg288Lys Variations SFTPC M71V, SFTPC IVS412, and ABCA3 R288K were analyzed with high-resolution melting analysis (ABI Fast 7500RT; Applied Biosystems, Foster City, CA). Login to comment 79 ABCA3 p.Ser1262Gly ABCA3 p.Arg288Lys ABCA3 Mutation Analysis Sequencing of exonic ABCA3 gene regions in patients with FPF with SFTPC mutations revealed two amino acid substitutions: S1262G and R288K (Table 3, Figure 2). Login to comment 80 ABCA3 p.Ser1262Gly ABCA3 p.Ser1262Gly ABCA3 p.Arg288Lys In the kindred of FPF9, S1262G did not segregate with disease but was inherited from her healthy father. Login to comment 81 ABCA3 p.Ser1262Gly ABCA3 p.Arg288Lys ABCA3 p.Arg280His ABCA3-R288K was found in FPF20, whereas a third ABCA3 variant, R280H, was found in one patient with sporadic disease. Login to comment 82 ABCA3 p.Arg288Lys ABCA3 p.Arg280His ABCA3-R288K was found in FPF20, whereas a third ABCA3 variant, R280H, was found in one patient with sporadic disease. Login to comment 154 ABCA3 p.Ser1262Gly ABCA3 p.Arg288Lys ABCA3 p.Arg280His NEWLY IDENTIFIED VARIANTS IN SURFACTANT PROTEIN C AND ATP-BINDING CASSETTE SUBFAMILY A MEMBER 3 Allele Frequency Gene cDNA Position Variant Name Consequence FPF sp.IIP Control Subjects SFTPC c.211 A.G M71V Nonsynonymous FPF7 0 0 c.218 T.C I73T Nonsynonymous FPF9, FPF18, FPF20 0 0 c.43512 T.C IVS412 Splice site FPF10 0 0 ABCA3 c.839G.A R280H Nonsynonymous - 0.004 0.015 c.863G.A R288K Nonsynonymous FPF20 0 0.015 c.3784 A.G S1262G Nonsynonymous FPF9 0 0.005 Definition of abbreviations: ABCA3 5 gene encoding ATP-binding cassette subfamily A member 3; SFTPC 5 gene encoding surfactant protein C; sp.IIP 5 sporadic idiopathic interstitial pneumonia. Login to comment 155 ABCA3 p.Ser1262Gly ABCA3 p.Arg288Lys ABCA3 p.Arg280His NEWLY IDENTIFIED VARIANTS IN SURFACTANT PROTEIN C AND ATP-BINDING CASSETTE SUBFAMILY A MEMBER 3 Allele Frequency Gene cDNA Position Variant Name Consequence FPF sp.IIP Control Subjects SFTPC c.211 A.G M71V Nonsynonymous FPF7 0 0 c.218 T.C I73T Nonsynonymous FPF9, FPF18, FPF20 0 0 c.43512 T.C IVS412 Splice site FPF10 0 0 ABCA3 c.839G.A R280H Nonsynonymous - 0.004 0.015 c.863G.A R288K Nonsynonymous FPF20 0 0.015 c.3784 A.G S1262G Nonsynonymous FPF9 0 0.005 Definition of abbreviations: ABCA3 5 gene encoding ATP-binding cassette subfamily A member 3; SFTPC 5 gene encoding surfactant protein C; sp.IIP 5 sporadic idiopathic interstitial pneumonia. Login to comment 156 ABCA3 p.Ser1262Gly SFTPC I73T and ABCA3 S1262G were genotyped in 511 healthy control subjects. Login to comment 157 ABCA3 p.Ser1262Gly SFTPC I73T and ABCA3 S1262G were genotyped in 511 healthy control subjects. Login to comment