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PMID: 22187380
Fatehi M, Raja M, Carter C, Soliman D, Holt A, Light PE
The ATP-sensitive K(+) channel ABCC8 S1369A type 2 diabetes risk variant increases MgATPase activity.
Diabetes. 2012 Jan;61(1):241-9.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
52
ABCC8 p.Gln1372Ala
X
ABCC8 p.Gln1372Ala 22187380:52:33
status:
NEW
view ABCC8 p.Gln1372Ala details
The E23K/S1369A variants and the
Q1372A
mutation were introduced into the KCNJ11 and ABCC8 cDNAs, respectively, using site-directed mutagenesis (QuikChange; Stratagene, La Jolla, CA) and confirmed by sequence analysis.
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91
ABCC8 p.Gln1372Ala
X
ABCC8 p.Gln1372Ala 22187380:91:31
status:
NEW
view ABCC8 p.Gln1372Ala details
ABCC8 p.Gln1372Ala
X
ABCC8 p.Gln1372Ala 22187380:91:83
status:
NEW
view ABCC8 p.Gln1372Ala details
Accordingly, we introduced the
Q1372A
mutation in the presence of S1369 (E23/S1369-
Q1372A
) to test whether the GTP stimulatory effect is similarly enhanced.
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92
ABCC8 p.Gln1372Ala
X
ABCC8 p.Gln1372Ala 22187380:92:4
status:
NEW
view ABCC8 p.Gln1372Ala details
The
Q1372A
mutation significantly enhanced the stimulatory effect of GTP compared with KATP channels containing E23/S1369 and Q1372 (2.42 6 0.15vs. 1.83 6 0.14-fold, P , 0.0001) (Fig. 2D and E).
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102
ABCC8 p.Gln1372Ala
X
ABCC8 p.Gln1372Ala 22187380:102:180
status:
NEW
view ABCC8 p.Gln1372Ala details
E: Grouped data showing a significant increase in the stimulatory effect of GTP in channels containing the A1369 variant and in channels containing the E23/S1369 variants with the
Q1372A
mutation (n = 10-20 patches per group).
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155
ABCC8 p.Gln1372Ala
X
ABCC8 p.Gln1372Ala 22187380:155:79
status:
NEW
view ABCC8 p.Gln1372Ala details
This concept is supported further by our data showing that introduction of the
Q1372A
mutation into channels containing the S1369 variant enhanced the GTP stimulatory effect (Fig. 2D and E).
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