PMID: 11231624

Quinton PM
The neglected ion: HCO3-.
Nat Med. 2001 Mar;7(3):292-3., [PubMed]
Sentences
No. Mutations Sentence Comment
69 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11231624:69:129
status: NEW
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ABCC7 p.Ala800Gly
X
ABCC7 p.Ala800Gly 11231624:69:92
status: NEW
view ABCC7 p.Ala800Gly details
ABCC7 p.Glu193Lys
X
ABCC7 p.Glu193Lys 11231624:69:21
status: NEW
view ABCC7 p.Glu193Lys details
 Some CFTR mutations (E193K) may support apparently normal, or even much larger than normal (A800G), Cl-transport whereas others (R117H) do not. Login to comment 70 ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 11231624:70:197
status: NEW
view ABCC7 p.Ile148Thr details
 However, mutations in CFTR that result in pancreatic insufficiency and more severe forms of the disease (bottom) do not support HC03 - transport but, surprisingly, may support normal Cl-transport (I148T). Login to comment