PMID: 12020354

Gentzsch M, Aleksandrov A, Aleksandrov L, Riordan JR
Functional analysis of the C-terminal boundary of the second nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator and structural implications.
Biochem J. 2002 Sep 1;366(Pt 2):541-8., 2002-09-01 [PubMed]
Sentences
No. Mutations Sentence Comment
151 ABCC7 p.Leu619Ser
X
ABCC7 p.Leu619Ser 12020354:151:32
status: NEW
view ABCC7 p.Leu619Ser details
ABCC7 p.Ile618Thr
X
ABCC7 p.Ile618Thr 12020354:151:22
status: NEW
view ABCC7 p.Ile618Thr details
 Both mutant proteins, I618T and L619S, fail to mature, when expressed in COS1 or HEK-293 cells [48,49]. Login to comment