ABCMdb

PMID: 24269975

Goncalves JP, Pinheiro L, Costa M, Silva A, Goncalves A, Pereira A
Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.
Gene. 2014 Jan 25;534(2):417-20. doi: 10.1016/j.gene.2013.11.015. Epub 2013 Nov 20., [PubMed]

Sentences

No. Mutations Sentence Comment

52 ABCA3 p.Arg1612Pro ABCA3 p.Arg1612Pro ABCA3 p.Leu798Pro She is a compound heterozygote carrier of a leucine798 (CTT) ࢐ proline (CCT)/p.Leu798Prol/L798P exchange and of an arginine1612 (CGG) ࢐ proline (CCG)/p.Arg1612Pro/R1612P substitution encoded by exons 18 and 31 of the ABCA3 gene. Login to comment 85 ABCA3 p.Arg1612Pro ABCA3 p.Leu798Pro In this case report PolyPhen-2 predicts that L798P is probably damaging (high confidence supposed to affect protein function and structure) and R1612P is benign (most likely lacking any phenotypic effect). Login to comment 86 ABCA3 p.Arg1612Pro ABCA3 p.Leu798Pro It appears that L798P is located in a nucleotide binding domain (NBD1), while R1612P in NBD2. Login to comment 88 ABCA3 p.Leu798Pro The L798P mutations occur in a residue in the ATP-binding domain that is highly conserved, and it almost certainly disrupts the function of the protein. Login to comment