PMID: 10892749

Hopfner KP, Karcher A, Shin DS, Craig L, Arthur LM, Carney JP, Tainer JA
Structural biology of Rad50 ATPase: ATP-driven conformational control in DNA double-strand break repair and the ABC-ATPase superfamily.
Cell. 2000 Jun 23;101(7):789-800., [PubMed]
Sentences
No. Mutations Sentence Comment
127 ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 10892749:127:125
status: NEW
view ABCC7 p.Ser549Arg details
 across the concave side of the dimer (Figure 4B), which interface of the Rad50 dimer and is analogous to a mutation in CFTR (S549R) that results in cystic fibrosis (Zie-widens toward its ends. Login to comment 167 ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 10892749:167:69
status: NEW
view ABCC7 p.Ser549Arg details
 As likely both ATP molecules5A) and is analogous to a CFTR mutation, S549R. Login to comment