ABCA12 p.Thr1980Lys
| Predicted by SNAP2: | A: D (59%), C: D (66%), D: D (80%), E: D (75%), F: D (63%), G: D (71%), H: D (66%), I: N (53%), K: D (75%), L: D (59%), M: D (59%), N: D (71%), P: D (75%), Q: D (63%), R: D (75%), S: N (57%), V: D (53%), W: D (71%), Y: D (59%), |
| Predicted by PROVEAN: | A: N, C: N, D: D, E: N, F: N, G: D, H: D, I: N, K: N, L: N, M: N, N: N, P: D, Q: N, R: N, S: N, V: N, W: N, Y: N, |
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[hide] ABCA12 is a major causative gene for non-bullous c... J Invest Dermatol. 2009 Sep;129(9):2306-9. Epub 2009 Mar 5. Sakai K, Akiyama M, Yanagi T, McMillan JR, Suzuki T, Tsukamoto K, Sugiyama H, Hatano Y, Hayashitani M, Takamori K, Nakashima K, Shimizu H
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.
J Invest Dermatol. 2009 Sep;129(9):2306-9. Epub 2009 Mar 5., [PMID:19262603]
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No. Sentence Comment
26 A total of six ABCA12 mutations were identified, and four of them-p.Trp1235Ser in the extracellular domain between the fifth and the sixth transmembrane domains, p.Pro1798Leu in the extracellular domain close to the seventh transmembrane domain, p.Thr1980Lys in the Abbreviations: LI, lamellar ichthyosis; NBCIE, non-bullous congenital ichthyosiform erythroderma; SNP, single-nucleotide polymorphism; TGase1, transglutaminase-1 Journal of Investigative Dermatology (2009), Volume 129 K Sakai et al. ABCA12 Mutations in Ichthyosiform Erythroderma extracellular domain close to the eighth transmembrane domain, and p.Arg2482X in the second adenosine triphosphate-binding cassette-were previously unidentified mutations.
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ABCA12 p.Thr1980Lys 19262603:26:248
status: NEW43 (À) This study NBCIE2 1 F p.[Thr1980Lys]+[?]
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ABCA12 p.Thr1980Lys 19262603:43:29
status: NEW