PMID: 23443156

Kitazawa H, Moriya K, Niizuma H, Kawano K, Saito-Nanjo Y, Uchiyama T, Rikiishi T, Sasahara Y, Sakamoto O, Setoguchi Y, Kure S
Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations.
Eur J Pediatr. 2013 Jul;172(7):953-7. doi: 10.1007/s00431-013-1977-8. Epub 2013 Feb 27., [PubMed]
Sentences
No. Mutations Sentence Comment
51 ABCA3 p.Lys914Arg
X
ABCA3 p.Lys914Arg 23443156:51:417
status: NEW
view ABCA3 p.Lys914Arg details
 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