ABCMdb

PMID: 19262603

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., [PubMed]

Sentences

No. Mutations Sentence Comment

26 ABCA12 p.Trp1235Ser ABCA12 p.Thr1980Lys ABCA12 p.Pro1798Leu 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. Login to comment 42 ABCA12 p.Pro1798Leu Age Sex ABCA12 mutation TGM1 mutation References NBCIE1 0 F p.[Pro1798Leu]+[?] Login to comment 43 ABCA12 p.Thr1980Lys ABCA12 p.Thr1980Lys (À) This study NBCIE2 1 F p.[Thr1980Lys]+[?] Login to comment 44 ABCA12 p.Trp1235Ser ABCA12 p.Trp1235Ser (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]+[?] Login to comment 45 ABCA12 p.Arg1514His ABCA12 p.Arg1514His ABCA12 p.Ile1494Thr ABCA12 p.Ile1494Thr ABCA12 p.Thr345Pro ABCA12 p.Thr345Pro (À) This study NBCIE8 52 M p.[Arg1514His]+[=] (À) This study NBCIE9 0 M (À) p.[Arg389His]+c.[2111delA] Akiyama et al. (2001a) NBCIE10 37 F p.[Thr345Pro]+[=] (À) Natsuga et al. (2007) NBCIE11 42 M p.[Ile1494Thr]+[?] Login to comment 46 ABCA12 p.Gly1136Asp ABCA12 p.Gly1136Asp (À) Natsuga et al. (2007) NBCIE12 2 M p.[Gly1136Asp]+ [Gln1669X] (À) Akiyama et al. (2008) LI1 0 M (À) p.[Arg307Trp]+[=] This study LI2 0 F (À) p.[Arg307Trp]+ c. Login to comment