ABCA12 p.Gly1136Asp
| Predicted by SNAP2: | A: D (80%), C: D (85%), D: D (85%), E: D (91%), F: D (91%), H: D (95%), I: D (91%), K: D (95%), L: D (91%), M: D (91%), N: D (91%), P: D (91%), Q: D (91%), R: D (95%), S: D (59%), T: D (80%), V: D (91%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: 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, 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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46 (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.
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ABCA12 p.Gly1136Asp 19262603:46:41
status: NEW[hide] Novel compound heterozygous nonsense and missense ... Br J Dermatol. 2008 Apr;158(4):864-7. Epub 2008 Feb 16. Akiyama M, Sakai K, Hatamochi A, Yamazaki S, McMillan JR, Shimizu H
Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma.
Br J Dermatol. 2008 Apr;158(4):864-7. Epub 2008 Feb 16., [PMID:18284401]
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31 In the classic NBCIE phenotype, the entire body is covered in fine, white scales over a background of erythrodermic skin.1 Mutations in ABCA12 are known to underlie harlequin ichthyosis (HI)2 and lamellar ichthyosis (LI).3 ABCA12 is a member of a large superfamily of ATP-binding cassette (ABC) transporters, which bind and hydrolyze ATP to transport various molecules across a limiting membrane or into a vesicle.4 The ABCA subfamily members are all thought to be lipid transporters.5 Lack of ABCA12 function subsequently leads to disruption of lamellar granule lipid transport in the upper keratinizing epidermal keratinocytes resulting in malformation of the stratum corneum intercellular lipid layers.2 Here we report that a compound heterozygote harbouring two novel ABCA12 mutations, c.3407G>A (p.Gly1136Asp) and c.5005C>T (p.Gln1669X), exhibited a typical NBCIE phenotype.
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ABCA12 p.Gly1136Asp 18284401:31:803
status: NEW40 Oligonucleotide primers and polymerase chain reaction conditions used for amplification of all ABCA12 exons and exon-intron borders were originally derived from the report by Lefe`vre et al.3 and were partially modified for the present study.2 In the patient, a combination of two novel heterozygous ABCA12 mutations, c.3407G>A (p.Gly1136Asp) in exon 24 and a novel nonsense mutation c.5005C>T (p.Gln1669X) in exon 33, were identified (sequence according to GenBank accession no.
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ABCA12 p.Gly1136Asp 18284401:40:331
status: NEW44 According to the molecular structure of ABCA12,6 the paternal missense mutation c.3407G>A (p.Gly1136Asp) in exon 24 leads to a substitution of a glycine residue at codon position 1136 to an aspartic acid residue, effecting an intracytoplasmic region between the second and the third ABCA12 transmembrane domains.
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ABCA12 p.Gly1136Asp 18284401:44:93
status: NEW49 mutation p.Gly1136Asp is close to the second transmembrane domain.
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ABCA12 p.Gly1136Asp 18284401:49:11
status: NEW[hide] Novel ABCA12 splice site deletion mutation and ABC... J Dermatol Sci. 2013 Mar;69(3):259-61. doi: 10.1016/j.jdermsci.2012.11.004. Epub 2012 Nov 14. Takeichi T, Sugiura K, Matsuda K, Kono M, Akiyama M
Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis.
J Dermatol Sci. 2013 Mar;69(3):259-61. doi: 10.1016/j.jdermsci.2012.11.004. Epub 2012 Nov 14., [PMID:23200509]
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56 Interestingly, a compound heterozygote for the two mutations c.5005C>T (p.Gln1669X) and c.3407G>A (p.Gly1136Asp) was previously reported to show a typical CIE phenotype [7].
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ABCA12 p.Gly1136Asp 23200509:56:101
status: NEW57 In this regard, we hypothesized that the difference between c.1062-3_1074del16 and c.3407G>A (p.Gly1136Asp) may determine whether the phenotype is HI or CIE.
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ABCA12 p.Gly1136Asp 23200509:57:96
status: NEW