ABCMdb

PMID: 14698290

Moncalian G, Lengsfeld B, Bhaskara V, Hopfner KP, Karcher A, Alden E, Tainer JA, Paull TT
The rad50 signature motif: essential to ATP binding and biological function.
J Mol Biol. 2004 Jan 23;335(4):937-51., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Ser549Arg The S793R mutation is analogous to the mutation S549R in the cystic fibrosis transmembrane conductance regulator (CFTR) that results in cystic fibrosis. Login to comment 33 ABCC7 p.Ser549Arg This S793R in the ABC ATPase signature motif of Rad50 is analogous to a mutation in the ABC ATPase CFTR (S549R) that results in cystic fibrosis.27 - 29 The three-dimensional structure of this S793R mutant was solved at 2.1 A da; , and shows that the arginine residue at position 793 disrupts the ATP binding and forms inappropriate contacts with nearby amino acid residues. Login to comment 163 ABCC7 p.Ser549Arg Strains and symbols are the same as in A. domains (NBD), and a serine to arginine change at residue 549 of NBD1 (equivalent to S793R in pfRad50) generates a non-functional transporter protein and consequently the cystic fibrosis disorder,28 suggesting that the same mutation may have similar effects in other proteins containing ABC domains. Login to comment 189 ABCC7 p.Ser549Arg Given that the analogous mutation in CFTR (S549R) results in cystic fibrosis,27 - 29 the important role of the signature motif in coupling ATP interactions to ABC ATPase functions characterized here may be general to all ABC ATPase proteins. Login to comment