ABCC8 p.Ser459Arg
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PMID: 21953423
[PubMed]
Iafusco D et al: "Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births."
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36
In patients with NDM, we identified a causative mutation in 11 cases with permanent diabetes (7 KCNJ11 and 4 INS) (3,4; and the frequent KCNJ11/R201H mutation in a patient born in September 2010) and 7 with transient diabetes (mutations: ABCC8/ S459R, ABCC8/R1380C, ABCC8/V1523M, KCNJ11/ R50Q (twice), KCNJ11/E229K, and 1 case with UDP6).
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ABCC8 p.Ser459Arg 21953423:36:245
status: NEW37 Transient neonatal diabetes mutations KCNJ11/R50H, KCNJ11/E229K, and ABCC8/R1380C have been previously reported [14], while ABCC8 mutations in same residue as ours, but with different amino acid change such as V1523A/L have been described associated with permanent neonatal diabetes [14].
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ABCC8 p.Ser459Arg 21953423:37:245
status: NEW38 Mutation ABCC8/S459R appears to be novel.
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ABCC8 p.Ser459Arg 21953423:38:15
status: NEW39 Mutation ABCC8/S459R appears to be novel.
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ABCC8 p.Ser459Arg 21953423:39:15
status: NEW