ABCC7 p.Ala96Val

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PMID: 15504721 [PubMed] Ge N et al: "Direct comparison of the functional roles played by different transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore."
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44 Preliminary studies showed that some such mutations in TM1 did not yield expression of functional channels, and in these cases more conservative substitutions were employed (i.e. T94S, K95Q, A96V).
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ABCC7 p.Ala96Val 15504721:44:191
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109 Thiocyanate permeability was strongly increased in A96V and T338A, suggesting enhancement of lyotropic selectivity in these mutants, and dramatically reduced in F337A, which we previously suggested reflects the role of Phe-337 in contributing to an anion selectivity filter in the pore (11, 36).
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ABCC7 p.Ala96Val 15504721:109:51
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154 However, the amplitude-independent current reversal potentials reflect an increased SCN- relative permeability (PSCN/PCl) in A96V and a diminished PSCN/PCl in F337A compared with wild type.
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ABCC7 p.Ala96Val 15504721:154:125
status: NEW
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