ABCMdb

PMID: 17700961

Quinton PM
Too much salt, too little soda: cystic fibrosis.
Sheng Li Xue Bao. 2007 Aug 25;59(4):397-415., 2007-08-25 [PubMed]

Sentences

No. Mutations Sentence Comment

30 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Of the other mutations only a few occur with a frequency greater than 1%, including G542X (2.4%), G551D (1.6%), N1303K (1.3%), and W1282X (1.2%). Login to comment 32 ABCC7 p.Glu217Gly ABCC7 p.Gln1352His In surveys in Japan[31] , Korea[32] , and Vietnam[33] , no ΔF508 mutations were detected, but among Koreans screened on the basis of bronchiectasis or chronicpancreatitis, three mutations, Q1352H, E217G, and IVS8-T5 appearing with a M470V allele were associated with disease[32] . Login to comment 78 ABCC7 p.Ser737Ala ABCC7 p.Ser768Ala Substitutionofalanine for phosphorylatable S737A or S768A enhanced the channel activity, suggesting that phosphorylation at either of these sites may inhibit phosphorylation of other stimulatory sites[72] . Login to comment 177 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.His620Gln The activity was CFTR mutation-specific and, for example, mutations such as R117H (the pancreas is spared in compound CF heterozygotes such as R117H/ΔF508)appeared to retain the ability to support exchange even though Cl-conductance was depressed while mutations such as H620Q did not support exchange, but retained a disputed[240] Cl-conductance. Login to comment