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PMID: 20460728
Matsuo M
ATP-binding cassette proteins involved in glucose and lipid homeostasis.
Biosci Biotechnol Biochem. 2010;74(5):899-907. Epub 2010 May 7.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
77
ABCC8 p.Arg1420Cys
X
ABCC8 p.Arg1420Cys 20460728:77:131
status:
NEW
view ABCC8 p.Arg1420Cys details
Several mutations have been reported to impair KATP channel activity by reducing MgADP activation.33,34) A missense SUR1 mutation (
R1420C
) has been identified in Japanese patients with a mild form of PHHI.35) Verkarre et al. also reported this Fig. 2.
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86
ABCC8 p.Arg1420Cys
X
ABCC8 p.Arg1420Cys 20460728:86:141
status:
NEW
view ABCC8 p.Arg1420Cys details
We found that the mutation does not affect the affinity of NBF1 for nucleotides, but lowers the affinity of NBF2 for ATP and for ADP.37) The
R1420C
mutation impairs cooperative nucleotide binding of the two NBFs, although it does not show direct effects on high-affinity 8-azido-ATP binding to NBF1.
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