ABCMdb

ABCC7 p.Gln220Glu

None has been submitted yet.

Publications

PMID: 17516627 [PubMed] Wehbi H et al: "Role of the extracellular loop in the folding of a CFTR transmembrane helical hairpin."

No. Sentence Comment

83 The Q220E replacement migrates faster than TM3/4 WT, the Q220G and Q220N mutants migrate at equivalent rates to TM3/4 WT, while the Q220W, Q220K, and Q220R substitutions migrate more slowly. Login to comment
90 The Q220E replacement, on the other hand, appeared to enhance the compactness of the TM3/4 WT hairpin. Login to comment
97 When the changes in TM3/4 WT hairpin migration were compared to changes in overall hairpin helicity, a strong correlation (R ) 0.79) was observed (Figure 5), leading us to propose that increases in non-native R-helix structure within ECL2 might Table 1: Migration Behavior on SDS-PAGE Gels of Single and Double Mutants in the Loop Region of CFTR TM3/4 Constructs % change in apparent MW on SDS-PAGE mutant vs TM3/4 WT in WT loop mutantsa vs TM3/4 V232D in V232D loop mutantsa Pb E217G 6.8 ( 0.7 E217S 11.1 ( 3.4 5.4 ( 1.4 0.056 Q220R 15.2 ( 1.1 Q220G 0.3 ( 0.4 Q220N 2.1 ( 1.3 0.5 ( 0.3 0.108 Q220K 14.1 ( 1.0 Q220W 13.1 ( 1.3 11.5 ( 0.9 0.157 Q220E -11.1 ( 1.1 -4.0 ( 0.3 <0.001 S222G 12.0 ( 2.1 1.1 ( 0.6 0.001 S222E -0.3 ( 2.4 1.3 ( 0.5 0.512 E217G/S222G 12.4 ( 1.9 E217S/S222E 26.1 ( 4.5 averagec 10.4 ( 7.3 4.0 ( 4.2 0.067 a Values are the percentage difference vs TM3/4 WT or TM3/4 V232D migration of SDS-PAGE gels. Login to comment
116 We found that the Q220E, S222G, and E217S replacements exhibited a relatively less pronounced effect on migration in the TM3/4 V232D hairpin than the TM3/4 WT background with high (p < 0.01 for Q220E and S222G) or detectable but marginal (p ) 0.056 for E217S) statistical significance. Login to comment
146 While there may be a potential charge factor in the migration patterns for certain Q220 mutations (Q220E, Q220K, and Q220R; Figure 3), the migration rates of other ECL2 mutants cannot be rationalized as simple functions of adding or subtracting single charges. Login to comment
147 For example, S222E and WT migrate at approximately the same rate, but Q220E moves at -11% vs WT; both S222G and E217G/S222G are at +12%; Q220K, Q220R, and Q220W are each at +13-15%. Login to comment