ABCA12 p.Pro1798Leu
| Predicted by SNAP2: | A: D (66%), C: D (75%), D: D (63%), E: D (63%), F: D (75%), G: D (80%), H: D (71%), I: D (66%), K: D (66%), L: D (85%), M: D (66%), N: D (53%), Q: D (63%), R: D (71%), S: D (75%), T: D (63%), V: D (71%), W: D (80%), Y: D (80%), |
| Predicted by PROVEAN: | A: D, C: D, D: N, E: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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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.
X
ABCA12 p.Pro1798Leu 19262603:26:164
status: NEW42 Age Sex ABCA12 mutation TGM1 mutation References NBCIE1 0 F p.[Pro1798Leu]+[?]
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ABCA12 p.Pro1798Leu 19262603:42:63
status: NEW