ABCC8 p.Val587Gly
| Predicted by SNAP2: | A: N (78%), C: N (66%), D: D (66%), E: D (53%), F: D (59%), G: N (53%), H: N (61%), I: N (78%), K: N (78%), L: N (57%), M: D (53%), N: N (57%), P: D (63%), Q: N (61%), R: N (66%), S: N (66%), T: N (72%), W: D (85%), Y: D (66%), |
| Predicted by PROVEAN: | A: N, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: N, W: D, Y: D, |
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[hide] A case of a Japanese patient with neonatal diabete... Clin Pediatr Endocrinol. 2015 Oct;24(4):191-3. doi: 10.1297/cpe.24.191. Epub 2015 Oct 24. Takeda R, Takagi M, Miyai K, Shinohara H, Yagi H, Moritani M, Yokota I, Hasegawa Y
A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide.
Clin Pediatr Endocrinol. 2015 Oct;24(4):191-3. doi: 10.1297/cpe.24.191. Epub 2015 Oct 24., [PMID:26568660]
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No. Sentence Comment
16 Sequencing analysis revealed a novelheterozygousmissensemutation(p.V587G) in exon 12 of the patient`s ABCC8 gene, but this mutation was not detected in his parents.
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ABCC8 p.Val587Gly 26568660:16:67
status: NEW