ABCA12 p.Trp1235Ser
| Predicted by SNAP2: | A: D (91%), C: D (91%), D: D (95%), E: D (95%), F: D (91%), G: D (95%), H: D (95%), I: D (91%), K: D (95%), L: D (91%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (91%), Y: D (91%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, Y: D, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[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]
Abstract [show]
Comments [show]
None has been submitted yet.
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.Trp1235Ser 19262603:26:68
status: NEW44 (À) This study NBCIE3 2 M (À) (À) This study NBCIE4 2 F (À) (À) This study NBCIE5 6 M p.[Arg1950X]+ [Trp1235Ser] (À) This study NBCIE6 9 F (À) (À) This study NBCIE7 11 F p.[Arg2482X]+[?]
X
ABCA12 p.Trp1235Ser 19262603:44:101
status: NEWX
ABCA12 p.Trp1235Ser 19262603:44:126
status: NEW[hide] Novel ABCA12 missense mutation p.Phe2144Ser underl... J Dermatol. 2013 Jul;40(7):581-2. doi: 10.1111/1346-8138.12169. Epub 2013 May 19. Shimizu Y, Sugiura K, Aoyama Y, Ogawa Y, Hitomi K, Iwatsuki K, Akiyama M
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma.
J Dermatol. 2013 Jul;40(7):581-2. doi: 10.1111/1346-8138.12169. Epub 2013 May 19., [PMID:23682801]
Abstract [show]
Comments [show]
None has been submitted yet.
No. Sentence Comment
19 Two mutations of p.Gly1136Asn and p.Phe2144Ser are in the extracytoplasmic loops between the transmembrane domains, and the other mutation, p.Trp1235Ser, is in the intracytoplasmic loop (a) (b) (c) (d) Figure 1.
X
ABCA12 p.Trp1235Ser 23682801:19:142
status: NEW