ABCMdb

ABCA3 p.Lys914Arg

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Publications

PMID: 19647838 [PubMed] Hamvas A et al: "Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes."

No. Sentence Comment

3 Results We identified 1 infant homozygous for the g.1549C > GAA mutation (121ins2) in SFTPB for whom only the mother was heterozygous and 3 infants homozygous for mutations in ABCA3 (p.K914R, p.P147L, and c.806_7insGCT) for whom only the fathers were heterozygous. Login to comment
42 With electron microscopy, dense inclusions within the lamellar bodies were identified, as reported previously with ABCA3 deficiency.4,21 Sequence analysis of ABCA3 revealed a novel homozygous A>G transition in the second nucleotide of codon 914 (c.2741A>G) that changes lysine to arginine (p.K914R) and is predicted to be ''not tolerated`` by SIFT (http://blocks.fhcrc.org/sift/SIFT.html) and ''potentially damaging`` by Polyphen (http://genetics.bwh.harvard.edu/ pph/). Login to comment
81 Informative variants in ABCA3 Variant ID Child Mother Father ABCA3 infant 1 rs323017 c.2514-93 A > G (Intron 19) G/G A/A A/G rs313908 c.2701-33 C > G (Intron 20) G/G C/C C/G Mutation c.2741A > G (p.K914R) G/G A/A A/G rs313909 c.3004 + 34 C > T (Intron 21) C/C T/T C/T rs1183064 c.3704-116 A > T (Intron 24) T/T A/A A/T ABCA3 infant 2 N/A c.-27 + 126 G > A (Intron 3) A/A G/G A/G Mutation c.440C > T (p.P147L) T/T C/C C/T rs170447 c.1741 + 33 G > A (Intron 14) A/A A/G A/G rs2240523 c.1742-116 C > T (Intron 14) C/C C/T C/T ABCA3 infant 3 Mutation c.806_807insGCT Ins/ins Normal/normal Ins/normal THE JOURNAL OF PEDIATRICS www.jpeds.com Vol. 155, No. Login to comment
41 With electron microscopy, dense inclusions within the lamellar bodies were identified, as reported previously with ABCA3 deficiency.4,21 Sequence analysis of ABCA3 revealed a novel homozygous A>G transition in the second nucleotide of codon 914 (c.2741A>G) that changes lysine to arginine (p.K914R) and is predicted to be ''not tolerated`` by SIFT (http://blocks.fhcrc.org/sift/SIFT.html) and ''potentially damaging`` by Polyphen (http://genetics.bwh.harvard.edu/ pph/). Login to comment

PMID: 23443156 [PubMed] Kitazawa H et al: "Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations."

No. Sentence Comment

51 The patient`s father showed a single 218-bp band representing the wild-type allele, while the other family members showed 130- and 94-bp bands from the BmrI-digested mutant alleles, in addition to wild-type bands (using the primers in reference 20), demonstrating two different heterozygous mutations in the patient: an A to G substitution at c.2741 in exon 21 (c.2741A>G), which resulted in a lysine to arginine (p.K914R) substitution (Fig. 3a); and a 6 bp in-frame insertion in exon 25 (c.3715_3716insGGGGGG), which added two glycines to the protein product (p.L1238_E1239insGG) and created a new BmrI digestion site (Fig. 3b). Login to comment