ABCC8 p.Gly1381Ser
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No.
Sentence
Comment
107
Although some of these mutations prevent targeting of the protein to the plasma membrane, others, such as G1381S, R1420C, E1506K and L1551V (Fig. 3) cause CHI by impairing KATP channel activation in response to metabolic inhibition or MgADP (Huopio et al., 2000).
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ABCC8 p.Gly1381Ser 14593442:107:106
status: NEW113 A similar argument can be made for the CHI mutation G1381S, which lies within the WA motif of NBD2, and might therefore influence nucleotide binding at site 2 and so prevent channel activation by MgADP (Shyng et al., 1998).
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ABCC8 p.Gly1381Ser 14593442:113:52
status: NEW117 Site 1 Site 2 NDB1 NDB2 G1381S E1506K L1551V R1402C Fig. 3 | Location of congenital hyperinsulinism mutations in the nucleotide-binding domains of sulphonylurea receptor SUR1.
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ABCC8 p.Gly1381Ser 14593442:117:24
status: NEW