ABCC8 p.Gly1342Glu
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PMID: 15579781
[PubMed]
Tornovsky S et al: "Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity."
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72
Photolabeling and surface expression After an overnight incubation after electroporation, whole-cell photolabeling (25) and surface expression assays were performed as pre- TABLE1.Patientclinicaldata Patientno.Ethnicity Ageat diagnosis Responsive todiazoxide Responsive tooctreotide PancreatectomyHistologyElectrophysiologyFamilyhistoryMutationsidentified 1BengalBirthNoNoYesDiffuseKATPchannelopathyNo3992-9g3a (homozyg) 2BedouinBirthPartialPartialYesDiffuseNotdoneYesR836X(homozyg) 3IndiaBirthNoPartialYesDiffuseKATPchannelopathyNoG111R(homozyg) 4ArabBirthNoNoYesDiffuseNotdoneNoR1494W (homozyg) 5CaucasianBirthNoPartialYesDiffuseKATPchannelopathyNoG70Eand R1419H 6CaucasianBirthNoPartialYesDiffuseKATPchannelopathyNo2154ϩ3a3gand G1342E 7ArabBirthNoPartialYesDiffuseNotdoneNo1113insT (homozyg) 8ArabBirtha NoPartialYesDiffuseNotdoneYesP254L(homozyg) 9Bedouin2dPartialYesNoNotdoneCousinwithtransient neonatal hypoglycemia ϩ88g3t (homozyg) 10CaucasianBirthNoPartialYesDiffuseKATPchannelopathyYes(sister)2154ϩ3a3g (heterozyg) 11Caucasian3dNoNoYesDiffuseNotdoneNo-64c3g (heterozyg) 12AshkenaziJewishBirthNoPartialNoNotdoneNoNone 13MixedAshkenazi- SepharadicJewish 4-6monthsResponsiveNottestedNoNotdoneNoNone 14Caucasian4-6monthsNoNoYesDiffuseNodefectsNoNone 15CaucasianBirthYesNottestedNoNotdoneYesNone Homozyg,Homozygous;heterozyg,heterozygous.
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ABCC8 p.Gly1342Glu 15579781:72:738
status: NEW94 Patient 6 inherited this mutation on the maternal allele and was found to have a second mutation (G1342E) on the paternal allele (Table 2).
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ABCC8 p.Gly1342Glu 15579781:94:98
status: NEW101 ABCC8 -64 c3g Promoter gcc gcc ccc Promoter 11 gGc G70E 2 ccc ggg cac Missense 5 gAg G111R 3 gcc ggg atg Missense 3 Agg 2154 ϩ 3a3g Intron 15 agg tat ggc Splice-site 6, 10 tGt R836X 21 cag cga atc Nonsense 2 Tga 1113 ins T 27 ttt ttt gag Single-base insertion 7 ttt ttt Tga 3992-9 g3a Intron 32 cgc aag cgt Splice-site 1 aaA G1342E 33 caa ggg aag Missense 6 gAg R1419H 35 ctg cgc tca Missense 5 cAc R1494W 37 gcc cgg gcc Missense 4 Tgg KCBJ11 ϩ88 g3t Promoter gaa gtg agg Promoter 9 Ttg P254L Exon 1 gcc cCg ctg Missense 8 cTg a For each mutation, the upper line indicates the wt sequence, and the lower line indicates the mutant sequence.
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ABCC8 p.Gly1342Glu 15579781:101:331
status: NEW