ABCMdb

ABCA3 p.Arg280His

None has been submitted yet.

Publications

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

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

No. Sentence 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