ABCMdb

ABCA3 p.Arg1333Gly

Predicted by SNAP2:	A: D (66%), C: D (66%), D: D (66%), E: D (66%), F: D (66%), G: D (66%), H: N (53%), I: D (63%), K: N (61%), L: D (66%), M: D (63%), N: N (53%), P: D (66%), Q: N (53%), S: N (53%), T: N (57%), V: D (63%), W: D (80%), Y: D (63%),
Predicted by PROVEAN:	A: N, C: D, D: D, E: N, F: N, G: D, H: N, I: N, K: N, L: N, M: N, N: N, P: D, Q: N, S: N, T: N, V: N, W: N, Y: N,

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Publications
[hide] Structural Features of the ATP-Binding Cassette (A... Int J Mol Sci. 2015 Aug 19;16(8):19631-44. doi: 10.3390/ijms160819631. Paolini A, Baldassarre A, Del Gaudio I, Masotti A
Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3.
Int J Mol Sci. 2015 Aug 19;16(8):19631-44. doi: 10.3390/ijms160819631., [PMID:26295388]

Abstract [show]
In this review we reported and discussed the structural features of the ATP-Binding Cassette (ABC) transporter ABCA3 and how the use of bioinformatics tools could help researchers to obtain a reliable structural model of this important transporter. In fact, a model of ABCA3 is still lacking and no crystallographic structures (of the transporter or of its orthologues) are available. With the advent of next generation sequencing, many disease-causing mutations have been discovered and many more will be found in the future. In the last few years, ABCA3 mutations have been reported to have important pediatric implications. Thus, clinicians need a reliable structure to locate relevant mutations of this transporter and make genotype/phenotype correlations of patients affected by ABCA3-related diseases. In conclusion, we strongly believe that the model preliminarily generated by these novel bioinformatics tools could be the starting point to obtain more refined models of the ABCA3 transporter.

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No. Sentence Comment
111 In particular, we focused on the following mutations: p.E292V, p.E690K, p.R1333G, p.W1142X, p.Y1515X, and p.L1553P. Login to comment
116 More difficult is to hypothesize a role for p.W1142X and p.R1333G both residing in b1;-helices of the transmembrane domain 2 (TMD2). Login to comment