ABCC1 p.Glu1507Gly
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PMID: 21617188
[PubMed]
Mannikko R et al: "Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes."
No.
Sentence
Comment
79
We identified novel heterozygous ABCC8 mutations, E1507D (c.4521G.
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ABCC1 p.Glu1507Gly 21617188:79:7
status: NEW80 T) and E1507G (c.4520A.G), in two male probands.
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ABCC1 p.Glu1507Gly 21617188:80:7
status: NEW86 After an E1507G mutation was identified, the patient was successfully transferred from insulin to glibenclamide at the age of 6 months.
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ABCC1 p.Glu1507Gly 21617188:86:9
status: NEW89 A family history of diabetes had not been reported for either proband, and testing of parental samples demonstrated that the E1507D and E1507G mutations had each arisen de novo in the proband.
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ABCC1 p.Glu1507Gly 21617188:89:136
status: NEW85 After an E1507G mutation was identified, the patient was successfully transferred from insulin to glibenclamide at the age of 6 months.
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ABCC1 p.Glu1507Gly 21617188:85:9
status: NEW88 A family history of diabetes had not been reported for either proband, and testing of parental samples demonstrated that the E1507D and E1507G mutations had each arisen de novo in the proband.
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ABCC1 p.Glu1507Gly 21617188:88:136
status: NEW