ABCMdb

ABCA3 p.Arg288Lys

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Publications

PMID: 22434821 [PubMed] Kaltenborn E et al: "Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation."

No. Sentence Comment

42 Immunohistochemical analysis of the lung tissue of this patient who was the compound heterozygote for ABCA3 p.Q215K and p.R288K showed no ABCA3 staining in ATII cells, and electron microscopy revealed the presence of many electron-dense bodies in the absence of LBs (9). Login to comment
44 Immunohistochemical analysis of the lung tissue of this patient who was the compound heterozygote for ABCA3 p.Q215K and p.R288K showed no ABCA3 staining in ATII cells, and electron microscopy revealed the presence of many electron-dense bodies in the absence of LBs (9). Login to comment

PMID: 20656946 [PubMed] van Moorsel CH et al: "Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort."

No. Sentence Comment

57 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 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 In the kindred of FPF9, S1262G did not segregate with disease but was inherited from her healthy father. Login to comment
81 ABCA3-R288K was found in FPF20, whereas a third ABCA3 variant, R280H, was found in one patient with sporadic disease. Login to comment
154 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
58 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
82 ABCA3-R288K was found in FPF20, whereas a third ABCA3 variant, R280H, was found in one patient with sporadic disease. Login to comment
155 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

PMID: 16728712 [PubMed] Brasch F et al: "Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency."

No. Sentence Comment

123 MUTATIONS OF THE ABCA3 GENE IN THE STUDY GROUP AND ABCA3 PROTEIN EXPRESSION IN TYPE II PNEUMOCYTES IN INDEX PATIENTS ABCA3 Protein Expression in Type II Pneumocytes in Index Patients Family Localization* Nucleotide Deviation Structural Relevance Affected Domain (immunohistochemical score)† 1 Exon 15 c1755C Ͼ G Silent polymorphism - Weak (1) Exon 15 c1814G Ͼ A R605Q (Arg Ͼ Gln) NBD 1 Exon 31 c4877-8delAG Frameshift/Stop C-terminus 2 Exon 10 c1058C Ͼ T Silent polymorphism - Weak (1) Intron 15 c1897-1G Ͼ C Acceptor splice-site mutation NBD 1 3 Exon 8 c643C Ͼ A Q215K (Gln Ͼ Lys) First extracellular loop Absent (0) Exon 8 c863G Ͼ A R288K (Arg Ͼ Lys) First extracellular loop 4 Intron 21 c3005-1G Ͼ A Acceptor splice-site mutation Second half-size transporter Weak (1) 5 Exon 5 c128G Ͼ T (het) R43L (Arg Ͼ Leu) First extracellular loop Absent (0) Exon 8 c863G Ͼ A (het) R288K (Arg Ͼ Lys) First extracellular loop Exon 15 c1755C Ͼ G (het) Silent polymorphism - Exon 31 c4751delT (het) Frameshift/Stop C-terminus 6 Exon 14 c1736T Ͼ C (het) L579P (Leu Ͼ Pro) NBD 1 Weak (1) Exon 25 c3812delG (het) Frameshift/Stop Last extracellular loop, C-terminus 7 Exon 30 c4681 C Ͼ T R1561X (Arg Ͼ Stop) C-terminus Weak (1) 8 Exon 19 c2429-30delTT Frameshift/Stop Second half-size transporter Weak (1) Definition of abbreviation: NBD ϭ nucleotide-binding domain. Login to comment

PMID: 23166334 [PubMed] Wambach JA et al: "Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome."

No. Sentence Comment

52 Two mutations previously associated with respiratory disease in newborns and children, p.R288K (c.863G.A) and p.E292V (c.875A.T),22-24 accounted for 13 of the 16 mutated alleles among RDS infants. Login to comment
57 Although the European-descent RDS infants had a lower mean gestational age than non-RDS infants (Table 1), there was no statistical difference in mean gestational age or birth weight for European-descent infants with or without ABCA3 mutations, thereby suggesting that ABCA3 mutations are associated with RDS rather than TABLE 3 Rare Mutations Identified Among Infants of European Descent Gene Mutation RDS (n = 112) Non-RDS (n = 161) Missouri Population (n = 871) ESP (n = 3510) ABCA3 R20W 2 R43C 1 V129M 1 A132T 1 V133M 1 R208W 1 L212M 3 14 P246L 1 R280C 1 R280H 12 R288K 6 (5.3%)a 2 (1.2%)a 14 (1.6%)a 54 (1.5%)a E292V 7 (6.2%)a 1 (0.6%)a 1 (0.1%)a 32 (0.9%)a V480M 1 E522K 1 I561F 1 G594R 1 L654V 2 G668D 1 R671C 1 S693L 1 7 E725K 1 T761K 1 R1081W 1 I1117M 1 A1119E 1 A1297T 1 I1382M 1 T1424M 1 M1428L 2 R1457Q 1 A1466T 1 R1474W 1 3 8 29 V1495M 1 S1516N 1 R1561Q 1 V1588M 1 c.3863-98 C.T 1 ABCA3 allele (carrier) frequency 16 (14.3%)a 6 (3.7%)a 31 (3.6%)a 176 (5.0%)a SFTPC D15N 1 I26V 1 A53T 1 1 L110R 1 SFTPC allele (carrier) frequency 1 (0.1%)a 4 (0.1%)a CHPT1 S40W 4 W60C 1 D132E 2 CHPT1 allele (carrier) frequency 7 (0.2%)a LPCAT1 G110S 1 P230S 1 R237Q 1 M298V 1 E312K 1 F460V 1 R526W 1 LPCAT1 allele (carrier) frequency 1 (0.1%)a 6 (0.2%)a PCYT1B V192F 1(0.03%)a Identified mutations are predicted to be damaging according to both SIFT and PolyPhen (accessed March 2012) or previous association with pediatric respiratory disease. Blank boxes indicate the mutations were not observed in that specific cohort. Login to comment
74 TABLE 4 Rare Mutations Identified Among Infants of African Descent Gene Mutations RDS (n = 44) Non-RDS (n = 196) Missouri Population (n = 195) ESP (n = 1869) ABCA3 R20W 2 V129M 12 F245L 1 R280C 1 R280H 2 R288K 7 (0.4%)a E292V 4 (0.2%)a F353L 3 N555S 5 G571R 1 T574I 1 2 P585S 1 L707F 14 G739A 2 15 V968M 1 1 F1164V 1 N1418S 1 R1474W 1 1 A1660V 1 Infants with variant 2 (4.5%)a 3 (1.5%)a 3 (1.5%)a 72 (3.9%)a SFTPC R35C 1 V39M 1 G57S 1 R81C 1 SFTPC allele (carrier) frequency 4 (0.2%)a CHPT1 G70R 2 T87M 1 G115A 1 Y365H 3 CHPT1 allele (carrier) frequency 7 (0.4%)a LPCAT1 A194V 6 L255Q 2 D392H 1 R526W 1 LPCAT1 allele (carrier) frequency 10 (0.5%)a PCYT1B G199D 1 (0.05%)a Identified mutations are predicted to be damaging according to both SIFT and PolyPhen (accessed March 2012) or previous association with pediatric respiratory disease. Blank boxes indicate the mutations were not observed in that specific cohort. Login to comment
91 For example, p.R288K is predicted to be benign (tolerated) by both prediction algorithms and would not have been included in our analysis had it not been previously associated with pediatric respiratory disease.22 Its threefold to fourfold enrichment among the European-descent RDS infants suggests an important role in the genetic pathogenesis of RDS. Login to comment

PMID: 24871971 [PubMed] Wambach JA et al: "Genotype-phenotype correlations for infants and children with ABCA3 deficiency."

No. Sentence Comment

134 Alleles with ABCA3 Variants in Cis Allele Number of Subjects with Allele R43C-P1653L 1 D115E-D253H 1 (2 alleles, 1 subject homozygous) V129M-V1495M 1 W179C-P770L 3 (3 subjects heterozygous) E195K-R1271Q 1 R280C-Q1589X 2 (3 alleles, 1 subject homozygous, 1 subject heterozygous) R288K-S693L 2 (2 subjects heterozygous) c.1474_1475insT-D953N 4 (3 siblings homozygous, 1 subject heterozygous) P766S-L960F 4 (4 subjects heterozygous) H778R-L1252P 1 A54T-R1482W-IVS25-98 C . Login to comment