ABCC8 p.Ala1184Glu
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PMID: 22451668
[PubMed]
Ortiz D et al: "Two neonatal diabetes mutations on transmembrane helix 15 of SUR1 increase affinity for ATP and ADP at nucleotide binding domain 2."
No.
Sentence
Comment
48
These substitutions are in a cluster of mutations that cause either neonatal diabetes (Q1178R, R1182Q, and A1184E) or hyperinsulinism (C1174F and S1185A).
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ABCC8 p.Ala1184Glu 22451668:48:107
status: NEW