PMID: 16101453

Suh KS, Yuspa SH
Intracellular chloride channels: critical mediators of cell viability and potential targets for cancer therapy.
Curr Pharm Des. 2005;11(21):2753-64., [PubMed]
Sentences
No. Mutations Sentence Comment
86 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 16101453:86:286
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16101453:86:324
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 16101453:86:381
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 16101453:86:333
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 16101453:86:214
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 16101453:86:119
status: NEW
view ABCC7 p.Gly542* details
 A variety of other mutations have been detected in CF patients [39] leading to ablation of protein synthesis (nonsense G542X, frameshift 394delTT, or splice junction 1717 G/A), blocked protein processing (missense N1303K or AA deletion in F508), blocked protein regulation (missense at G551D), altered conductance (missense R117H or R347P), and reduced protein synthesis (missense A455E, alternative splicing 3849 + 10kbC/T) [40]. Login to comment