ABCC7 p.Pro355Ser
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PMID: 19897426
[PubMed]
Picci L et al: "A 10-year large-scale cystic fibrosis carrier screening in the Italian population."
No.
Sentence
Comment
131
Aminoacid change Nucleotide change A349V 1178C→T D372E 1251T→G D674V 2153A→T D806G 2549A→G I586V 1888A→G I807V 2551A→G I840T 2651T→C L1335F 4135C→T L1414S 4373T→C L1480P 4571T→C M348T 1175T→C N416S 1379A→G P1290T 4000C→T P355S 1195C→T Q1268R 3935A→G Q1352E 4186C→G S431G 2423A→G S660T 2110T→A S911R 2865T→G T1263A 3919A→G T788I 2495C→T V920L 2890G→T Y1381H 4273T→C Y84H 382T→C two CFTR mutations and who had not been previously diagnosed with CF [29].
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ABCC7 p.Pro355Ser 19897426:131:312
status: NEW
PMID: 24876383
[PubMed]
Wei S et al: "Conserved allosteric hot spots in the transmembrane domains of cystic fibrosis transmembrane conductance regulator (CFTR) channels and multidrug resistance protein (MRP) pumps."
No.
Sentence
Comment
158
Mean percentages of ATP-free currents afe; S.E. (error bars) were as follows: WT, 0.7 afe; 0.2% (n afd; 5); P355A, 5.0 afe; 1.4% (n afd; 10); P355S, 7.3 afe; 2.0% (n afd; 7); and P355F, 5.4 afe; 1.5% (n afd; 5).
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ABCC7 p.Pro355Ser 24876383:158:157
status: NEW165 TABLE 1 Single channel data for multiple Pro-355 CFTR mutants in the absence of ATP and following AMP-PNP activation Conditions were identical to those described in the legend to Fig. 2. n afd; 6 (WT), 7 (P355A), 8 (P355F), and 5 (P355S) patches, respectively.
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ABCC7 p.Pro355Ser 24876383:165:15
status: NEWX
ABCC7 p.Pro355Ser 24876383:165:234
status: NEW166 WT P355A P355F P355S Mean Po With ATP 0.3074afe;.00514 0.4078 afe; 0.0601 0.4867 afe; 0.0429 0.5212 afe; 0.1048 Without ATP 0.0009 afe; 0.0004 0.0217 afe; 0.0065a 0.0413 afe; 0.0145a 0.0365 afe; 0.0131a With AMP-PNP 0.0127 afe; 0.0114 0.1942 afe; 0.0619a 0.1112 afe; 0.0342a 0.1549 afe; 0.0651a Mean open frequency (sd1a;1 ) With ATP 0.222 afe; 0.021 0.270 afe; 0.028 0.384 afe; 0.049 0.334 afe; 0.059 Without ATP 0.004 afe; 0.001 0.020 afe; 0.002a 0.046 afe; 0.010a 0.028 afe; 0.006a With AMP-PNP 0.013 afe; 0.006 0.131 afe; 0.053a 0.104 afe; 0.035a 0.118 afe; 0.045a a p b0d; 0.05 compared with WT.
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ABCC7 p.Pro355Ser 24876383:166:15
status: NEW157 Mean percentages of ATP-free currents afe; S.E. (error bars) were as follows: WT, 0.7 afe; 0.2% (n afd; 5); P355A, 5.0 afe; 1.4% (n afd; 10); P355S, 7.3 afe; 2.0% (n afd; 7); and P355F, 5.4 afe; 1.5% (n afd; 5).
X
ABCC7 p.Pro355Ser 24876383:157:157
status: NEW164 TABLE 1 Single channel data for multiple Pro-355 CFTR mutants in the absence of ATP and following AMP-PNP activation Conditions were identical to those described in the legend to Fig. 2. n afd; 6 (WT), 7 (P355A), 8 (P355F), and 5 (P355S) patches, respectively.
X
ABCC7 p.Pro355Ser 24876383:164:234
status: NEW