ABCMdb

ABCC8 p.Gln485His

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Publications

PMID: 21989597 [PubMed] Bowman P et al: "Heterozygous ABCC8 mutations are a cause of MODY."

No. Sentence Comment

61 The Q485R mutation arose de novo in proband 6 and is novel, although a different mutation at this residue, Q485H, has been reported in a patient with PNDM [10]. Login to comment
62 Two of the novel mutations, N1245D and E100K (probands 4 and 7), were inherited from a diabetic parent but grandparental samples were not available to check cosegregation. Login to comment
66 The Q485R mutation arose de novo in proband 6 and is novel, although a different mutation at this residue, Q485H, has been reported in a patient with PNDM [10]. Login to comment

PMID: 21049026 [PubMed] Bonnefond A et al: "Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome."

No. Sentence Comment

6 From our WES with high-quality reads, we identified a novel non-synonymous mutation in ABCC8 (c.1455G.C/p.Q485H), despite a previous negative sequencing of this gene. Login to comment
59 Unexpectedly, we identified a novel heterozygous non-synonymous mutation c.1455G.C/p.Q485H in the 9th exon of ABCC8. Login to comment
61 In both cases, we identified the p.Q485H mutation in ABCC8, confirming our WES results. Login to comment
62 In addition, retrospective re-examination of the data generated six years ago indicated that the p.Q485H mutation was present in the original ABCC8 exon 9 sequences (chromogram). Login to comment
63 The ABCC8 p.Q485H mutation was not found in 348 French nondiabetic individuals or in the patient`s mother, father and young brother, all of whom are normoglycemic. Login to comment
64 The p.Q485H mutation affects an amino acid that is located in the transmembrane domain 1 (TMD1) of the ABCC8/SUR1 core; and that is highly conserved across species (Rhesus, Mouse, Dog, Rabbit, Elephant, Opossum, Platypus, Chicken, Lizard, Stickleback, X_Tropicalis, Tetraodon) according to the UCSC (NCBI/hg18) comparative genomics alignment pipeline (http://www.bx.psu. Login to comment
66 We evaluated the possible functional significance of the p.Q485H mutation by the PolyPhen-2 (Polymorphism Phenotyping v2) software which uses sequenceand structure-based criteria to predict the putative impact of point mutations on the structure and function of human proteins [8]: the p.Q485H mutation is predicted 'probably damaging` with a score of 0.999 (the score of 1 indicating the most damaging mutation). Login to comment
78 The p.Q485H mutation was missed six years ago by the research assistant in charge of the sequence reading. Login to comment
87 We are quite confident that the p.Q485H mutation is likely to be functional given the non ambiguous prediction of its putative damaging effect. Login to comment
114 Mutation validation The p.Q485H mutation identified via WES was confirmed using the Sanger method. Login to comment
57 Unexpectedly, we identified a novel heterozygous non-synonymous mutation c.1455G.C/p.Q485H in the 9th exon of ABCC8. Login to comment
60 In addition, retrospective re-examination of the data generated six years ago indicated that the p.Q485H mutation was present in the original ABCC8 exon 9 sequences (chromogram). Login to comment
76 The p.Q485H mutation was missed six years ago by the research assistant in charge of the sequence reading. Login to comment
85 We are quite confident that the p.Q485H mutation is likely to be functional given the non ambiguous prediction of its putative damaging effect. Login to comment
112 Mutation validation The p.Q485H mutation identified via WES was confirmed using the Sanger method. Login to comment